SNP Links for Protein (Select 974987447) - SNP

Select item 14891964731.

rs1489196473 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:27367559 (GRCh38)
2:27590426 (GRCh37)
Canonical SPDI:: NC_000002.12:27367558:G:A,NC_000002.12:27367558:G:C
Gene:: EIF2B4 (Varview), GTF3C2-AS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
C=0.000071/1 (TOMMO)
HGVS:: NC_000002.12:g.27367559G>A, NC_000002.12:g.27367559G>C, NC_000002.11:g.27590426G>A, NC_000002.11:g.27590426G>C, NG_009305.1:g.7899C>T, NG_009305.1:g.7899C>G, NM_172195.4:c.843C>T, NM_172195.4:c.843C>G, NM_172195.3:c.843C>T, NM_172195.3:c.843C>G, NM_015636.4:c.780C>T, NM_015636.4:c.780C>G, NM_015636.3:c.780C>T, NM_015636.3:c.780C>G, NM_001318966.2:c.738C>T, NM_001318966.2:c.738C>G, NM_001318966.1:c.738C>T, NM_001318966.1:c.738C>G, NM_001318965.2:c.846C>T, NM_001318965.2:c.846C>G, NM_001318965.1:c.846C>T, NM_001318965.1:c.846C>G, NM_001034116.2:c.783C>T, NM_001034116.2:c.783C>G, NM_001034116.1:c.783C>T, NM_001034116.1:c.783C>G, NM_001318967.2:c.690C>T, NM_001318967.2:c.690C>G, NM_001318967.1:c.690C>T, NM_001318967.1:c.690C>G, NM_001318968.2:c.198C>T, NM_001318968.2:c.198C>G, NM_001318968.1:c.198C>T, NM_001318968.1:c.198C>G, NM_001318969.2:c.165C>T, NM_001318969.2:c.165C>G, NM_001318969.1:c.165C>T, NM_001318969.1:c.165C>G, XR_007086253.1:n.2457G>A, XR_007086253.1:n.2457G>C, NP_751945.2:p.Ser281Arg, NP_056451.3:p.Ser260Arg, NP_001305895.1:p.Ser246Arg, NP_001305894.1:p.Ser282Arg, NP_001029288.1:p.Ser261Arg, NP_001305896.1:p.Ser230Arg, NP_001305897.1:p.Ser66Arg, NP_001305898.1:p.Ser55Arg

Select item 14890405292.

rs1489040529 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:27367181 (GRCh38)
2:27590048 (GRCh37)
Canonical SPDI:: NC_000002.12:27367180:T:C
Gene:: EIF2B4 (Varview), GTF3C2-AS2 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27367181T>C, NC_000002.11:g.27590048T>C, NG_009305.1:g.8277A>G, NM_172195.4:c.966A>G, NM_172195.3:c.966A>G, NM_015636.4:c.903A>G, NM_015636.3:c.903A>G, NM_001318966.2:c.861A>G, NM_001318966.1:c.861A>G, NM_001318965.2:c.969A>G, NM_001318965.1:c.969A>G, NM_001034116.2:c.906A>G, NM_001034116.1:c.906A>G, NM_001318967.2:c.813A>G, NM_001318967.1:c.813A>G, NM_001318968.2:c.321A>G, NM_001318968.1:c.321A>G, NM_001318969.2:c.288A>G, NM_001318969.1:c.288A>G

Select item 14882138283.

rs1488213828 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:27367102 (GRCh38)
2:27589969 (GRCh37)
Canonical SPDI:: NC_000002.12:27367101:T:C
Gene:: EIF2B4 (Varview), GTF3C2-AS2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27367102T>C, NC_000002.11:g.27589969T>C, NG_009305.1:g.8356A>G, NM_172195.4:c.1045A>G, NM_172195.3:c.1045A>G, NM_015636.4:c.982A>G, NM_015636.3:c.982A>G, NM_001318966.2:c.940A>G, NM_001318966.1:c.940A>G, NM_001318965.2:c.1048A>G, NM_001318965.1:c.1048A>G, NM_001034116.2:c.985A>G, NM_001034116.1:c.985A>G, NM_001318967.2:c.892A>G, NM_001318967.1:c.892A>G, NM_001318968.2:c.400A>G, NM_001318968.1:c.400A>G, NM_001318969.2:c.367A>G, NM_001318969.1:c.367A>G, NP_751945.2:p.Asn349Asp, NP_056451.3:p.Asn328Asp, NP_001305895.1:p.Asn314Asp, NP_001305894.1:p.Asn350Asp, NP_001029288.1:p.Asn329Asp, NP_001305896.1:p.Asn298Asp, NP_001305897.1:p.Asn134Asp, NP_001305898.1:p.Asn123Asp

Select item 14777449104.

rs1477744910 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:27368101 (GRCh38)
2:27590968 (GRCh37)
Canonical SPDI:: NC_000002.12:27368100:A:T
Gene:: EIF2B4 (Varview), GTF3C2-AS2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27368101A>T, NC_000002.11:g.27590968A>T, NG_009305.1:g.7357T>A, NM_172195.4:c.689T>A, NM_172195.3:c.689T>A, NM_015636.4:c.626T>A, NM_015636.3:c.626T>A, NM_001318966.2:c.584T>A, NM_001318966.1:c.584T>A, NM_001318965.2:c.692T>A, NM_001318965.1:c.692T>A, NM_001034116.2:c.629T>A, NM_001034116.1:c.629T>A, NM_001318967.2:c.536T>A, NM_001318967.1:c.536T>A, NM_001318968.2:c.44T>A, NM_001318968.1:c.44T>A, NM_001318969.2:c.11T>A, NM_001318969.1:c.11T>A, NP_751945.2:p.Leu230His, NP_056451.3:p.Leu209His, NP_001305895.1:p.Leu195His, NP_001305894.1:p.Leu231His, NP_001029288.1:p.Leu210His, NP_001305896.1:p.Leu179His, NP_001305897.1:p.Leu15His, NP_001305898.1:p.Leu4His

Select item 14763724435.

rs1476372443 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:27366825 (GRCh38)
2:27589692 (GRCh37)
Canonical SPDI:: NC_000002.12:27366824:A:G
Gene:: EIF2B4 (Varview), GTF3C2-AS2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.27366825A>G, NC_000002.11:g.27589692A>G, NG_009305.1:g.8633T>C, NM_172195.4:c.1185T>C, NM_172195.3:c.1185T>C, NM_015636.4:c.1122T>C, NM_015636.3:c.1122T>C, NM_001318966.2:c.1080T>C, NM_001318966.1:c.1080T>C, NM_001318965.2:c.1188T>C, NM_001318965.1:c.1188T>C, NM_001034116.2:c.1125T>C, NM_001034116.1:c.1125T>C, NM_001318967.2:c.1032T>C, NM_001318967.1:c.1032T>C, NM_001318968.2:c.540T>C, NM_001318968.1:c.540T>C, NM_001318969.2:c.507T>C, NM_001318969.1:c.507T>C

Select item 14636461006.

rs1463646100 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27366856 (GRCh38)
2:27589723 (GRCh37)
Canonical SPDI:: NC_000002.12:27366855:G:A
Gene:: EIF2B4 (Varview), GTF3C2-AS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.27366856G>A, NC_000002.11:g.27589723G>A, NG_009305.1:g.8602C>T, NM_172195.4:c.1154C>T, NM_172195.3:c.1154C>T, NM_015636.4:c.1091C>T, NM_015636.3:c.1091C>T, NM_001318966.2:c.1049C>T, NM_001318966.1:c.1049C>T, NM_001318965.2:c.1157C>T, NM_001318965.1:c.1157C>T, NM_001034116.2:c.1094C>T, NM_001034116.1:c.1094C>T, NM_001318967.2:c.1001C>T, NM_001318967.1:c.1001C>T, NM_001318968.2:c.509C>T, NM_001318968.1:c.509C>T, NM_001318969.2:c.476C>T, NM_001318969.1:c.476C>T, NP_751945.2:p.Pro385Leu, NP_056451.3:p.Pro364Leu, NP_001305895.1:p.Pro350Leu, NP_001305894.1:p.Pro386Leu, NP_001029288.1:p.Pro365Leu, NP_001305896.1:p.Pro334Leu, NP_001305897.1:p.Pro170Leu, NP_001305898.1:p.Pro159Leu

Select item 14631177297.

rs1463117729 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27368067 (GRCh38)
2:27590934 (GRCh37)
Canonical SPDI:: NC_000002.12:27368066:G:A
Gene:: EIF2B4 (Varview), GTF3C2-AS2 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,synonymous_variant
HGVS:: NC_000002.12:g.27368067G>A, NC_000002.11:g.27590934G>A, NG_009305.1:g.7391C>T, NM_172195.4:c.723C>T, NM_172195.3:c.723C>T, NM_015636.4:c.660C>T, NM_015636.3:c.660C>T, NM_001318966.2:c.618C>T, NM_001318966.1:c.618C>T, NM_001318965.2:c.726C>T, NM_001318965.1:c.726C>T, NM_001034116.2:c.663C>T, NM_001034116.1:c.663C>T, NM_001318967.2:c.570C>T, NM_001318967.1:c.570C>T, NM_001318968.2:c.78C>T, NM_001318968.1:c.78C>T, NM_001318969.2:c.45C>T, NM_001318969.1:c.45C>T

Select item 14597801138.

rs1459780113 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27364856 (GRCh38)
2:27587723 (GRCh37)
Canonical SPDI:: NC_000002.12:27364855:C:T
Gene:: EIF2B4 (Varview), GTF3C2-AS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27364856C>T, NC_000002.11:g.27587723C>T, NG_009305.1:g.10602G>A, NM_172195.4:c.1294G>A, NM_172195.3:c.1294G>A, NM_015636.4:c.1231G>A, NM_015636.3:c.1231G>A, NM_001318966.2:c.1189G>A, NM_001318966.1:c.1189G>A, NM_001318965.2:c.1297G>A, NM_001318965.1:c.1297G>A, NM_001034116.2:c.1234G>A, NM_001034116.1:c.1234G>A, NM_001318967.2:c.1141G>A, NM_001318967.1:c.1141G>A, NM_001318968.2:c.649G>A, NM_001318968.1:c.649G>A, NM_001318969.2:c.616G>A, NM_001318969.1:c.616G>A, NP_751945.2:p.Gly432Arg, NP_056451.3:p.Gly411Arg, NP_001305895.1:p.Gly397Arg, NP_001305894.1:p.Gly433Arg, NP_001029288.1:p.Gly412Arg, NP_001305896.1:p.Gly381Arg, NP_001305897.1:p.Gly217Arg, NP_001305898.1:p.Gly206Arg

Select item 14577663299.

rs1457766329 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:27364557 (GRCh38)
2:27587424 (GRCh37)
Canonical SPDI:: NC_000002.12:27364556:G:A,NC_000002.12:27364556:G:T
Gene:: EIF2B4 (Varview), GTF3C2-AS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000023/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.27364557G>A, NC_000002.12:g.27364557G>T, NC_000002.11:g.27587424G>A, NC_000002.11:g.27587424G>T, NG_009305.1:g.10901C>T, NG_009305.1:g.10901C>A, NM_172195.4:c.1475C>T, NM_172195.4:c.1475C>A, NM_172195.3:c.1475C>T, NM_172195.3:c.1475C>A, NM_015636.4:c.1412C>T, NM_015636.4:c.1412C>A, NM_015636.3:c.1412C>T, NM_015636.3:c.1412C>A, NM_001318966.2:c.1370C>T, NM_001318966.2:c.1370C>A, NM_001318966.1:c.1370C>T, NM_001318966.1:c.1370C>A, NM_001318965.2:c.1478C>T, NM_001318965.2:c.1478C>A, NM_001318965.1:c.1478C>T, NM_001318965.1:c.1478C>A, NM_001034116.2:c.1415C>T, NM_001034116.2:c.1415C>A, NM_001034116.1:c.1415C>T, NM_001034116.1:c.1415C>A, NM_001318967.2:c.1322C>T, NM_001318967.2:c.1322C>A, NM_001318967.1:c.1322C>T, NM_001318967.1:c.1322C>A, NM_001318968.2:c.830C>T, NM_001318968.2:c.830C>A, NM_001318968.1:c.830C>T, NM_001318968.1:c.830C>A, NM_001318969.2:c.797C>T, NM_001318969.2:c.797C>A, NM_001318969.1:c.797C>T, NM_001318969.1:c.797C>A, NP_751945.2:p.Ala492Val, NP_751945.2:p.Ala492Glu, NP_056451.3:p.Ala471Val, NP_056451.3:p.Ala471Glu, NP_001305895.1:p.Ala457Val, NP_001305895.1:p.Ala457Glu, NP_001305894.1:p.Ala493Val, NP_001305894.1:p.Ala493Glu, NP_001029288.1:p.Ala472Val, NP_001029288.1:p.Ala472Glu, NP_001305896.1:p.Ala441Val, NP_001305896.1:p.Ala441Glu, NP_001305897.1:p.Ala277Val, NP_001305897.1:p.Ala277Glu, NP_001305898.1:p.Ala266Val, NP_001305898.1:p.Ala266Glu

Select item 145734327610.

rs1457343276 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:27364796 (GRCh38)
2:27587663 (GRCh37)
Canonical SPDI:: NC_000002.12:27364795:C:A
Gene:: EIF2B4 (Varview), GTF3C2-AS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27364796C>A, NC_000002.11:g.27587663C>A, NG_009305.1:g.10662G>T, NM_172195.4:c.1354G>T, NM_172195.3:c.1354G>T, NM_015636.4:c.1291G>T, NM_015636.3:c.1291G>T, NM_001318966.2:c.1249G>T, NM_001318966.1:c.1249G>T, NM_001318965.2:c.1357G>T, NM_001318965.1:c.1357G>T, NM_001034116.2:c.1294G>T, NM_001034116.1:c.1294G>T, NM_001318967.2:c.1201G>T, NM_001318967.1:c.1201G>T, NM_001318968.2:c.709G>T, NM_001318968.1:c.709G>T, NM_001318969.2:c.676G>T, NM_001318969.1:c.676G>T, NP_751945.2:p.Val452Leu, NP_056451.3:p.Val431Leu, NP_001305895.1:p.Val417Leu, NP_001305894.1:p.Val453Leu, NP_001029288.1:p.Val432Leu, NP_001305896.1:p.Val401Leu, NP_001305897.1:p.Val237Leu, NP_001305898.1:p.Val226Leu

Select item 145728095211.

rs1457280952 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27364480 (GRCh38)
2:27587347 (GRCh37)
Canonical SPDI:: NC_000002.12:27364479:C:T
Gene:: EIF2B4 (Varview), GTF3C2-AS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27364480C>T, NC_000002.11:g.27587347C>T, NG_009305.1:g.10978G>A, NM_172195.4:c.1552G>A, NM_172195.3:c.1552G>A, NM_015636.4:c.1489G>A, NM_015636.3:c.1489G>A, NM_001318966.2:c.1447G>A, NM_001318966.1:c.1447G>A, NM_001318965.2:c.1555G>A, NM_001318965.1:c.1555G>A, NM_001034116.2:c.1492G>A, NM_001034116.1:c.1492G>A, NM_001318967.2:c.1399G>A, NM_001318967.1:c.1399G>A, NM_001318968.2:c.907G>A, NM_001318968.1:c.907G>A, NM_001318969.2:c.874G>A, NM_001318969.1:c.874G>A, NP_751945.2:p.Asp518Asn, NP_056451.3:p.Asp497Asn, NP_001305895.1:p.Asp483Asn, NP_001305894.1:p.Asp519Asn, NP_001029288.1:p.Asp498Asn, NP_001305896.1:p.Asp467Asn, NP_001305897.1:p.Asp303Asn, NP_001305898.1:p.Asp292Asn

Select item 145486642312.

rs1454866423 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:27367458 (GRCh38)
2:27590325 (GRCh37)
Canonical SPDI:: NC_000002.12:27367457:T:C
Gene:: EIF2B4 (Varview), GTF3C2-AS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27367458T>C, NC_000002.11:g.27590325T>C, NG_009305.1:g.8000A>G, NM_172195.4:c.944A>G, NM_172195.3:c.944A>G, NM_015636.4:c.881A>G, NM_015636.3:c.881A>G, NM_001318966.2:c.839A>G, NM_001318966.1:c.839A>G, NM_001318965.2:c.947A>G, NM_001318965.1:c.947A>G, NM_001034116.2:c.884A>G, NM_001034116.1:c.884A>G, NM_001318967.2:c.791A>G, NM_001318967.1:c.791A>G, NM_001318968.2:c.299A>G, NM_001318968.1:c.299A>G, NM_001318969.2:c.266A>G, NM_001318969.1:c.266A>G, XR_007086253.1:n.2356T>C, NP_751945.2:p.Glu315Gly, NP_056451.3:p.Glu294Gly, NP_001305895.1:p.Glu280Gly, NP_001305894.1:p.Glu316Gly, NP_001029288.1:p.Glu295Gly, NP_001305896.1:p.Glu264Gly, NP_001305897.1:p.Glu100Gly, NP_001305898.1:p.Glu89Gly

Select item 145437714113.

rs1454377141 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:27364869 (GRCh38)
2:27587736 (GRCh37)
Canonical SPDI:: NC_000002.12:27364868:T:C
Gene:: EIF2B4 (Varview), GTF3C2-AS2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.27364869T>C, NC_000002.11:g.27587736T>C, NG_009305.1:g.10589A>G, NM_172195.4:c.1281A>G, NM_172195.3:c.1281A>G, NM_015636.4:c.1218A>G, NM_015636.3:c.1218A>G, NM_001318966.2:c.1176A>G, NM_001318966.1:c.1176A>G, NM_001318965.2:c.1284A>G, NM_001318965.1:c.1284A>G, NM_001034116.2:c.1221A>G, NM_001034116.1:c.1221A>G, NM_001318967.2:c.1128A>G, NM_001318967.1:c.1128A>G, NM_001318968.2:c.636A>G, NM_001318968.1:c.636A>G, NM_001318969.2:c.603A>G, NM_001318969.1:c.603A>G

Select item 144864575614.

rs1448645756 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27366886 (GRCh38)
2:27589753 (GRCh37)
Canonical SPDI:: NC_000002.12:27366885:C:T
Gene:: EIF2B4 (Varview), GTF3C2-AS2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.27366886C>T, NC_000002.11:g.27589753C>T, NG_009305.1:g.8572G>A, NM_172195.4:c.1124G>A, NM_172195.3:c.1124G>A, NM_015636.4:c.1061G>A, NM_015636.3:c.1061G>A, NM_001318966.2:c.1019G>A, NM_001318966.1:c.1019G>A, NM_001318965.2:c.1127G>A, NM_001318965.1:c.1127G>A, NM_001034116.2:c.1064G>A, NM_001034116.1:c.1064G>A, NM_001318967.2:c.971G>A, NM_001318967.1:c.971G>A, NM_001318968.2:c.479G>A, NM_001318968.1:c.479G>A, NM_001318969.2:c.446G>A, NM_001318969.1:c.446G>A, NP_751945.2:p.Arg375Gln, NP_056451.3:p.Arg354Gln, NP_001305895.1:p.Arg340Gln, NP_001305894.1:p.Arg376Gln, NP_001029288.1:p.Arg355Gln, NP_001305896.1:p.Arg324Gln, NP_001305897.1:p.Arg160Gln, NP_001305898.1:p.Arg149Gln

Select item 144331469715.

rs1443314697 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27366920 (GRCh38)
2:27589787 (GRCh37)
Canonical SPDI:: NC_000002.12:27366919:G:A
Gene:: EIF2B4 (Varview), GTF3C2-AS2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.27366920G>A, NC_000002.11:g.27589787G>A, NG_009305.1:g.8538C>T, NM_172195.4:c.1090C>T, NM_172195.3:c.1090C>T, NM_015636.4:c.1027C>T, NM_015636.3:c.1027C>T, NM_001318966.2:c.985C>T, NM_001318966.1:c.985C>T, NM_001318965.2:c.1093C>T, NM_001318965.1:c.1093C>T, NM_001034116.2:c.1030C>T, NM_001034116.1:c.1030C>T, NM_001318967.2:c.937C>T, NM_001318967.1:c.937C>T, NM_001318968.2:c.445C>T, NM_001318968.1:c.445C>T, NM_001318969.2:c.412C>T, NM_001318969.1:c.412C>T, NP_751945.2:p.Arg364Ter, NP_056451.3:p.Arg343Ter, NP_001305895.1:p.Arg329Ter, NP_001305894.1:p.Arg365Ter, NP_001029288.1:p.Arg344Ter, NP_001305896.1:p.Arg313Ter, NP_001305897.1:p.Arg149Ter, NP_001305898.1:p.Arg138Ter

Select item 143990585516.

rs1439905855 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:27364492 (GRCh38)
2:27587359 (GRCh37)
Canonical SPDI:: NC_000002.12:27364491:G:A,NC_000002.12:27364491:G:C
Gene:: EIF2B4 (Varview), GTF3C2-AS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.27364492G>A, NC_000002.12:g.27364492G>C, NC_000002.11:g.27587359G>A, NC_000002.11:g.27587359G>C, NG_009305.1:g.10966C>T, NG_009305.1:g.10966C>G, NM_172195.4:c.1540C>T, NM_172195.4:c.1540C>G, NM_172195.3:c.1540C>T, NM_172195.3:c.1540C>G, NM_015636.4:c.1477C>T, NM_015636.4:c.1477C>G, NM_015636.3:c.1477C>T, NM_015636.3:c.1477C>G, NM_001318966.2:c.1435C>T, NM_001318966.2:c.1435C>G, NM_001318966.1:c.1435C>T, NM_001318966.1:c.1435C>G, NM_001318965.2:c.1543C>T, NM_001318965.2:c.1543C>G, NM_001318965.1:c.1543C>T, NM_001318965.1:c.1543C>G, NM_001034116.2:c.1480C>T, NM_001034116.2:c.1480C>G, NM_001034116.1:c.1480C>T, NM_001034116.1:c.1480C>G, NM_001318967.2:c.1387C>T, NM_001318967.2:c.1387C>G, NM_001318967.1:c.1387C>T, NM_001318967.1:c.1387C>G, NM_001318968.2:c.895C>T, NM_001318968.2:c.895C>G, NM_001318968.1:c.895C>T, NM_001318968.1:c.895C>G, NM_001318969.2:c.862C>T, NM_001318969.2:c.862C>G, NM_001318969.1:c.862C>T, NM_001318969.1:c.862C>G, NP_751945.2:p.Pro514Ser, NP_751945.2:p.Pro514Ala, NP_056451.3:p.Pro493Ser, NP_056451.3:p.Pro493Ala, NP_001305895.1:p.Pro479Ser, NP_001305895.1:p.Pro479Ala, NP_001305894.1:p.Pro515Ser, NP_001305894.1:p.Pro515Ala, NP_001029288.1:p.Pro494Ser, NP_001029288.1:p.Pro494Ala, NP_001305896.1:p.Pro463Ser, NP_001305896.1:p.Pro463Ala, NP_001305897.1:p.Pro299Ser, NP_001305897.1:p.Pro299Ala, NP_001305898.1:p.Pro288Ser, NP_001305898.1:p.Pro288Ala

Select item 143880992517.

rs1438809925 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:27368110 (GRCh38)
2:27590977 (GRCh37)
Canonical SPDI:: NC_000002.12:27368109:A:G
Gene:: EIF2B4 (Varview), GTF3C2-AS2 (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,initiator_codon_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27368110A>G, NC_000002.11:g.27590977A>G, NG_009305.1:g.7348T>C, NM_172195.4:c.680T>C, NM_172195.3:c.680T>C, NM_015636.4:c.617T>C, NM_015636.3:c.617T>C, NM_001318966.2:c.575T>C, NM_001318966.1:c.575T>C, NM_001318965.2:c.683T>C, NM_001318965.1:c.683T>C, NM_001034116.2:c.620T>C, NM_001034116.1:c.620T>C, NM_001318967.2:c.527T>C, NM_001318967.1:c.527T>C, NM_001318968.2:c.35T>C, NM_001318968.1:c.35T>C, NM_001318969.2:c.2T>C, NM_001318969.1:c.2T>C, NP_751945.2:p.Met227Thr, NP_056451.3:p.Met206Thr, NP_001305895.1:p.Met192Thr, NP_001305894.1:p.Met228Thr, NP_001029288.1:p.Met207Thr, NP_001305896.1:p.Met176Thr, NP_001305897.1:p.Met12Thr, NP_001305898.1:p.Met1Thr

Select item 143378339818.

rs1433783398 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:27364768 (GRCh38)
2:27587635 (GRCh37)
Canonical SPDI:: NC_000002.12:27364767:T:C
Gene:: EIF2B4 (Varview), GTF3C2-AS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.27364768T>C, NC_000002.11:g.27587635T>C, NG_009305.1:g.10690A>G, NM_172195.4:c.1382A>G, NM_172195.3:c.1382A>G, NM_015636.4:c.1319A>G, NM_015636.3:c.1319A>G, NM_001318966.2:c.1277A>G, NM_001318966.1:c.1277A>G, NM_001318965.2:c.1385A>G, NM_001318965.1:c.1385A>G, NM_001034116.2:c.1322A>G, NM_001034116.1:c.1322A>G, NM_001318967.2:c.1229A>G, NM_001318967.1:c.1229A>G, NM_001318968.2:c.737A>G, NM_001318968.1:c.737A>G, NM_001318969.2:c.704A>G, NM_001318969.1:c.704A>G, NP_751945.2:p.Tyr461Cys, NP_056451.3:p.Tyr440Cys, NP_001305895.1:p.Tyr426Cys, NP_001305894.1:p.Tyr462Cys, NP_001029288.1:p.Tyr441Cys, NP_001305896.1:p.Tyr410Cys, NP_001305897.1:p.Tyr246Cys, NP_001305898.1:p.Tyr235Cys

Select item 143217619319.

rs1432176193 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:27366860 (GRCh38)
2:27589727 (GRCh37)
Canonical SPDI:: NC_000002.12:27366859:G:T
Gene:: EIF2B4 (Varview), GTF3C2-AS2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27366860G>T, NC_000002.11:g.27589727G>T, NG_009305.1:g.8598C>A, NM_172195.4:c.1150C>A, NM_172195.3:c.1150C>A, NM_015636.4:c.1087C>A, NM_015636.3:c.1087C>A, NM_001318966.2:c.1045C>A, NM_001318966.1:c.1045C>A, NM_001318965.2:c.1153C>A, NM_001318965.1:c.1153C>A, NM_001034116.2:c.1090C>A, NM_001034116.1:c.1090C>A, NM_001318967.2:c.997C>A, NM_001318967.1:c.997C>A, NM_001318968.2:c.505C>A, NM_001318968.1:c.505C>A, NM_001318969.2:c.472C>A, NM_001318969.1:c.472C>A

Select item 142296774220.

rs1422967742 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:27364884 (GRCh38)
2:27587751 (GRCh37)
Canonical SPDI:: NC_000002.12:27364883:T:A
Gene:: EIF2B4 (Varview), GTF3C2-AS2 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27364884T>A, NC_000002.11:g.27587751T>A, NG_009305.1:g.10574A>T, NM_172195.4:c.1266A>T, NM_172195.3:c.1266A>T, NM_015636.4:c.1203A>T, NM_015636.3:c.1203A>T, NM_001318966.2:c.1161A>T, NM_001318966.1:c.1161A>T, NM_001318965.2:c.1269A>T, NM_001318965.1:c.1269A>T, NM_001034116.2:c.1206A>T, NM_001034116.1:c.1206A>T, NM_001318967.2:c.1113A>T, NM_001318967.1:c.1113A>T, NM_001318968.2:c.621A>T, NM_001318968.1:c.621A>T, NM_001318969.2:c.588A>T, NM_001318969.1:c.588A>T

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 287

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 287

Page of 15

Page of 15

Display Settings:

Supplemental Content

Find related data

Recent activity