SNP Links for Protein (Select 974987445) - SNP

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Links from Protein

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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 14869458964.

rs1486945896 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:27369439 (GRCh38)
2:27592306 (GRCh37)
Canonical SPDI:: NC_000002.12:27369438:A:C
Gene:: EIF2B4 (Varview), SNX17 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.27369439A>C, NC_000002.11:g.27592306A>C, NG_009305.1:g.6019T>G, NM_172195.4:c.249T>G, NM_172195.3:c.249T>G, NM_015636.4:c.186T>G, NM_015636.3:c.186T>G, NM_001318966.2:c.141T>G, NM_001318966.1:c.141T>G, NM_001318965.2:c.249T>G, NM_001318965.1:c.249T>G, NM_001034116.2:c.186T>G, NM_001034116.1:c.186T>G, NM_001318967.2:c.96T>G, NM_001318967.1:c.96T>G, NM_001318968.2:c.-330T>G, NM_001318968.1:c.-330T>G, NM_001318969.2:c.-407T>G, NM_001318969.1:c.-407T>G

Select item 14851548745.

rs1485154874 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:27368399 (GRCh38)
2:27591266 (GRCh37)
Canonical SPDI:: NC_000002.12:27368398:C:G
Gene:: EIF2B4 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27368399C>G, NC_000002.11:g.27591266C>G, NG_009305.1:g.7059G>C, NM_172195.4:c.623G>C, NM_172195.3:c.623G>C, NM_015636.4:c.560G>C, NM_015636.3:c.560G>C, NM_001318966.2:c.518G>C, NM_001318966.1:c.518G>C, NM_001318965.2:c.626G>C, NM_001318965.1:c.626G>C, NM_001034116.2:c.563G>C, NM_001034116.1:c.563G>C, NM_001318967.2:c.470G>C, NM_001318967.1:c.470G>C, NM_001318968.2:c.-23G>C, NM_001318968.1:c.-23G>C, NM_001318969.2:c.-30G>C, NM_001318969.1:c.-30G>C, NP_751945.2:p.Arg208Thr, NP_056451.3:p.Arg187Thr, NP_001305895.1:p.Arg173Thr, NP_001305894.1:p.Arg209Thr, NP_001029288.1:p.Arg188Thr, NP_001305896.1:p.Arg157Thr

Select item 14777449106.

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 14763724437.

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 14738125028.

rs1473812502 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27369140 (GRCh38)
2:27592007 (GRCh37)
Canonical SPDI:: NC_000002.12:27369139:C:T
Gene:: EIF2B4 (Varview), SNX17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27369140C>T, NC_000002.11:g.27592007C>T, NG_009305.1:g.6318G>A, NM_172195.4:c.344G>A, NM_172195.3:c.344G>A, NM_015636.4:c.281G>A, NM_015636.3:c.281G>A, NM_001318966.2:c.239G>A, NM_001318966.1:c.239G>A, NM_001318965.2:c.347G>A, NM_001318965.1:c.347G>A, NM_001034116.2:c.284G>A, NM_001034116.1:c.284G>A, NM_001318967.2:c.191G>A, NM_001318967.1:c.191G>A, NM_001318968.2:c.-232G>A, NM_001318968.1:c.-232G>A, NM_001318969.2:c.-309G>A, NM_001318969.1:c.-309G>A, NP_751945.2:p.Arg115Gln, NP_056451.3:p.Arg94Gln, NP_001305895.1:p.Arg80Gln, NP_001305894.1:p.Arg116Gln, NP_001029288.1:p.Arg95Gln, NP_001305896.1:p.Arg64Gln

Select item 14728665499.

rs1472866549 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:27368720 (GRCh38)
2:27591587 (GRCh37)
Canonical SPDI:: NC_000002.12:27368719:G:A,NC_000002.12:27368719:G:T
Gene:: EIF2B4 (Varview), SNX17 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.27368720G>A, NC_000002.12:g.27368720G>T, NC_000002.11:g.27591587G>A, NC_000002.11:g.27591587G>T, NG_009305.1:g.6738C>T, NG_009305.1:g.6738C>A, NM_172195.4:c.492C>T, NM_172195.4:c.492C>A, NM_172195.3:c.492C>T, NM_172195.3:c.492C>A, NM_015636.4:c.429C>T, NM_015636.4:c.429C>A, NM_015636.3:c.429C>T, NM_015636.3:c.429C>A, NM_001318966.2:c.387C>T, NM_001318966.2:c.387C>A, NM_001318966.1:c.387C>T, NM_001318966.1:c.387C>A, NM_001318965.2:c.495C>T, NM_001318965.2:c.495C>A, NM_001318965.1:c.495C>T, NM_001318965.1:c.495C>A, NM_001034116.2:c.432C>T, NM_001034116.2:c.432C>A, NM_001034116.1:c.432C>T, NM_001034116.1:c.432C>A, NM_001318967.2:c.339C>T, NM_001318967.2:c.339C>A, NM_001318967.1:c.339C>T, NM_001318967.1:c.339C>A, NM_001318968.2:c.-154C>T, NM_001318968.2:c.-154C>A, NM_001318968.1:c.-154C>T, NM_001318968.1:c.-154C>A, NM_001318969.2:c.-161C>T, NM_001318969.2:c.-161C>A, NM_001318969.1:c.-161C>T, NM_001318969.1:c.-161C>A

Select item 146706273110.

rs1467062731 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:27368676 (GRCh38)
2:27591543 (GRCh37)
Canonical SPDI:: NC_000002.12:27368675:A:G
Gene:: EIF2B4 (Varview), SNX17 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27368676A>G, NC_000002.11:g.27591543A>G, NG_009305.1:g.6782T>C, NM_172195.4:c.536T>C, NM_172195.3:c.536T>C, NM_015636.4:c.473T>C, NM_015636.3:c.473T>C, NM_001318966.2:c.431T>C, NM_001318966.1:c.431T>C, NM_001318965.2:c.539T>C, NM_001318965.1:c.539T>C, NM_001034116.2:c.476T>C, NM_001034116.1:c.476T>C, NM_001318967.2:c.383T>C, NM_001318967.1:c.383T>C, NM_001318968.2:c.-110T>C, NM_001318968.1:c.-110T>C, NM_001318969.2:c.-117T>C, NM_001318969.1:c.-117T>C, NP_751945.2:p.Val179Ala, NP_056451.3:p.Val158Ala, NP_001305895.1:p.Val144Ala, NP_001305894.1:p.Val180Ala, NP_001029288.1:p.Val159Ala, NP_001305896.1:p.Val128Ala

Select item 146388385911.

rs1463883859 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:27368660 (GRCh38)
2:27591527 (GRCh37)
Canonical SPDI:: NC_000002.12:27368659:A:G
Gene:: EIF2B4 (Varview), SNX17 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_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=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.27368660A>G, NC_000002.11:g.27591527A>G, NG_009305.1:g.6798T>C, NM_172195.4:c.552T>C, NM_172195.3:c.552T>C, NM_015636.4:c.489T>C, NM_015636.3:c.489T>C, NM_001318966.2:c.447T>C, NM_001318966.1:c.447T>C, NM_001318965.2:c.555T>C, NM_001318965.1:c.555T>C, NM_001034116.2:c.492T>C, NM_001034116.1:c.492T>C, NM_001318967.2:c.399T>C, NM_001318967.1:c.399T>C, NM_001318968.2:c.-94T>C, NM_001318968.1:c.-94T>C, NM_001318969.2:c.-101T>C, NM_001318969.1:c.-101T>C

Select item 146364610012.

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 146311772913.

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 146053481514.

rs1460534815 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27369471 (GRCh38)
2:27592338 (GRCh37)
Canonical SPDI:: NC_000002.12:27369470:C:T
Gene:: EIF2B4 (Varview), SNX17 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.27369471C>T, NC_000002.11:g.27592338C>T, NG_009305.1:g.5987G>A, NM_172195.4:c.217G>A, NM_172195.3:c.217G>A, NM_015636.4:c.154G>A, NM_015636.3:c.154G>A, NM_001318966.2:c.109G>A, NM_001318966.1:c.109G>A, NM_001318965.2:c.217G>A, NM_001318965.1:c.217G>A, NM_001034116.2:c.154G>A, NM_001034116.1:c.154G>A, NM_001318967.2:c.64G>A, NM_001318967.1:c.64G>A, NM_001318968.2:c.-362G>A, NM_001318968.1:c.-362G>A, NM_001318969.2:c.-439G>A, NM_001318969.1:c.-439G>A, NP_751945.2:p.Glu73Lys, NP_056451.3:p.Glu52Lys, NP_001305895.1:p.Glu37Lys, NP_001305894.1:p.Glu73Lys, NP_001029288.1:p.Glu52Lys, NP_001305896.1:p.Glu22Lys

Select item 145978011315.

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 145776632916.

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 145734327617.

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 145728095218.

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 145486642319.

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 145437714120.

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

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