SNP Links for Protein (Select 21071010) - SNP

Links from Protein

Items: 1 to 20 of 582

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Select item 14898899571.

rs1489889957 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:30607340 (GRCh38)
22:31003327 (GRCh37)
Canonical SPDI:: NC_000022.11:30607339:C:G,NC_000022.11:30607339:C:T
Gene:: TCN2 (Varview), PES1 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant,2KB_upstream_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.30607340C>G, NC_000022.11:g.30607340C>T, NC_000022.10:g.31003327C>G, NC_000022.10:g.31003327C>T, NG_007263.1:g.5167C>G, NG_007263.1:g.5167C>T, NM_000355.4:c.9C>G, NM_000355.4:c.9C>T, NM_000355.3:c.9C>G, NM_000355.3:c.9C>T, NM_001184726.2:c.9C>G, NM_001184726.2:c.9C>T, NM_001184726.1:c.9C>G, NM_001184726.1:c.9C>T, NG_076148.1:g.399C>G, NG_076148.1:g.399C>T, NM_001190420.1:c.9C>G, NM_001190420.1:c.9C>T, NP_000346.2:p.His3Gln, NP_001171655.1:p.His3Gln

Select item 14896338812.

rs1489633881 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:30626482 (GRCh38)
22:31022469 (GRCh37)
Canonical SPDI:: NC_000022.11:30626481:G:A
Gene:: TCN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.30626482G>A, NC_000022.10:g.31022469G>A, NG_007263.1:g.24309G>A, NM_000355.4:c.1245G>A, NM_000355.3:c.1245G>A, NM_001184726.2:c.1164G>A, NM_001184726.1:c.1164G>A, NM_001190420.1:c.1242G>A

Select item 14887891473.

rs1488789147 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:30617414 (GRCh38)
22:31013401 (GRCh37)
Canonical SPDI:: NC_000022.11:30617413:C:G,NC_000022.11:30617413:C:T
Gene:: TCN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.30617414C>G, NC_000022.11:g.30617414C>T, NC_000022.10:g.31013401C>G, NC_000022.10:g.31013401C>T, NG_007263.1:g.15241C>G, NG_007263.1:g.15241C>T, NM_000355.4:c.1025C>G, NM_000355.4:c.1025C>T, NM_000355.3:c.1025C>G, NM_000355.3:c.1025C>T, NM_001184726.2:c.944C>G, NM_001184726.2:c.944C>T, NM_001184726.1:c.944C>G, NM_001184726.1:c.944C>T, NM_001190420.1:c.1022C>G, NM_001190420.1:c.1022C>T, NP_000346.2:p.Pro342Arg, NP_000346.2:p.Pro342Leu, NP_001171655.1:p.Pro315Arg, NP_001171655.1:p.Pro315Leu

Select item 14876536504.

rs1487653650 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:30613030 (GRCh38)
22:31009017 (GRCh37)
Canonical SPDI:: NC_000022.11:30613029:A:G
Gene:: TCN2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.30613030A>G, NC_000022.10:g.31009017A>G, NG_007263.1:g.10857A>G, NM_000355.4:c.415A>G, NM_000355.3:c.415A>G, NM_001190420.1:c.412A>G, NP_000346.2:p.Lys139Glu

Select item 14856328845.

rs1485632884 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:30610905 (GRCh38)
22:31006892 (GRCh37)
Canonical SPDI:: NC_000022.11:30610904:G:A
Gene:: TCN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.30610905G>A, NC_000022.10:g.31006892G>A, NG_007263.1:g.8732G>A, NM_000355.4:c.99G>A, NM_000355.3:c.99G>A, NM_001184726.2:c.99G>A, NM_001184726.1:c.99G>A, NM_001190420.1:c.96G>A

Select item 14848802056.

rs1484880205 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:30614386 (GRCh38)
22:31010373 (GRCh37)
Canonical SPDI:: NC_000022.11:30614385:C:A,NC_000022.11:30614385:C:T
Gene:: TCN2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000022.11:g.30614386C>A, NC_000022.11:g.30614386C>T, NC_000022.10:g.31010373C>A, NC_000022.10:g.31010373C>T, NG_007263.1:g.12213C>A, NG_007263.1:g.12213C>T, NM_000355.4:c.465C>A, NM_000355.4:c.465C>T, NM_000355.3:c.465C>A, NM_000355.3:c.465C>T, NM_001184726.2:c.384C>A, NM_001184726.2:c.384C>T, NM_001184726.1:c.384C>A, NM_001184726.1:c.384C>T, NM_001190420.1:c.462C>A, NM_001190420.1:c.462C>T, NP_000346.2:p.Tyr155Ter, NP_001171655.1:p.Tyr128Ter

Select item 14842212567.

rs1484221256 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:30611037 (GRCh38)
22:31007024 (GRCh37)
Canonical SPDI:: NC_000022.11:30611036:G:A
Gene:: TCN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.30611037G>A, NC_000022.10:g.31007024G>A, NG_007263.1:g.8864G>A, NM_000355.4:c.231G>A, NM_000355.3:c.231G>A, NM_001184726.2:c.231G>A, NM_001184726.1:c.231G>A, NM_001190420.1:c.228G>A

Select item 14795872628.

rs1479587262 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:30613022 (GRCh38)
22:31009009 (GRCh37)
Canonical SPDI:: NC_000022.11:30613021:A:G
Gene:: TCN2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.30613022A>G, NC_000022.10:g.31009009A>G, NG_007263.1:g.10849A>G, NM_000355.4:c.407A>G, NM_000355.3:c.407A>G, NM_001190420.1:c.404A>G, NP_000346.2:p.Glu136Gly

Select item 14768850749.

rs1476885074 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 22:30615647 (GRCh38)
22:31011634 (GRCh37)
Canonical SPDI:: NC_000022.11:30615646:G:A,NC_000022.11:30615646:G:T
Gene:: TCN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.30615647G>A, NC_000022.11:g.30615647G>T, NC_000022.10:g.31011634G>A, NC_000022.10:g.31011634G>T, NG_007263.1:g.13474G>A, NG_007263.1:g.13474G>T, NM_000355.4:c.800G>A, NM_000355.4:c.800G>T, NM_000355.3:c.800G>A, NM_000355.3:c.800G>T, NM_001184726.2:c.719G>A, NM_001184726.2:c.719G>T, NM_001184726.1:c.719G>A, NM_001184726.1:c.719G>T, NM_001190420.1:c.797G>A, NM_001190420.1:c.797G>T, NP_000346.2:p.Cys267Tyr, NP_000346.2:p.Cys267Phe, NP_001171655.1:p.Cys240Tyr, NP_001171655.1:p.Cys240Phe

Select item 147561158010.

rs1475611580 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:30615759 (GRCh38)
22:31011746 (GRCh37)
Canonical SPDI:: NC_000022.11:30615758:G:C
Gene:: TCN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.30615759G>C, NC_000022.10:g.31011746G>C, NG_007263.1:g.13586G>C, NM_000355.4:c.912G>C, NM_000355.3:c.912G>C, NM_001184726.2:c.831G>C, NM_001184726.1:c.831G>C, NM_001190420.1:c.909G>C

Select item 147441549511.

rs1474415495 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:30610917 (GRCh38)
22:31006904 (GRCh37)
Canonical SPDI:: NC_000022.11:30610916:C:A,NC_000022.11:30610916:C:T
Gene:: TCN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
T=0.000546/1 (Korea1K)
HGVS:: NC_000022.11:g.30610917C>A, NC_000022.11:g.30610917C>T, NC_000022.10:g.31006904C>A, NC_000022.10:g.31006904C>T, NG_007263.1:g.8744C>A, NG_007263.1:g.8744C>T, NM_000355.4:c.111C>A, NM_000355.4:c.111C>T, NM_000355.3:c.111C>A, NM_000355.3:c.111C>T, NM_001184726.2:c.111C>A, NM_001184726.2:c.111C>T, NM_001184726.1:c.111C>A, NM_001184726.1:c.111C>T, NM_001190420.1:c.108C>A, NM_001190420.1:c.108C>T, NP_000346.2:p.His37Gln, NP_001171655.1:p.His37Gln

Select item 147394543812.

rs1473945438 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:30612905 (GRCh38)
22:31008892 (GRCh37)
Canonical SPDI:: NC_000022.11:30612904:A:C
Gene:: TCN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.30612905A>C, NC_000022.10:g.31008892A>C, NG_007263.1:g.10732A>C, NM_000355.4:c.290A>C, NM_000355.3:c.290A>C, NM_001184726.2:c.290A>C, NM_001184726.1:c.290A>C, NM_001190420.1:c.287A>C, NP_000346.2:p.Gln97Pro, NP_001171655.1:p.Gln97Pro

Select item 147223434413.

rs1472234344 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 22:30614373 (GRCh38)
22:31010360 (GRCh37)
Canonical SPDI:: NC_000022.11:30614372:A:C,NC_000022.11:30614372:A:T
Gene:: TCN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
C=0.001092/2 (Korea1K)
HGVS:: NC_000022.11:g.30614373A>C, NC_000022.11:g.30614373A>T, NC_000022.10:g.31010360A>C, NC_000022.10:g.31010360A>T, NG_007263.1:g.12200A>C, NG_007263.1:g.12200A>T, NM_000355.4:c.452A>C, NM_000355.4:c.452A>T, NM_000355.3:c.452A>C, NM_000355.3:c.452A>T, NM_001184726.2:c.371A>C, NM_001184726.2:c.371A>T, NM_001184726.1:c.371A>C, NM_001184726.1:c.371A>T, NM_001190420.1:c.449A>C, NM_001190420.1:c.449A>T, NP_000346.2:p.His151Pro, NP_000346.2:p.His151Leu, NP_001171655.1:p.His124Pro, NP_001171655.1:p.His124Leu

Select item 147019958514.

rs1470199585 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:30614391 (GRCh38)
22:31010378 (GRCh37)
Canonical SPDI:: NC_000022.11:30614390:A:G
Gene:: TCN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000022.11:g.30614391A>G, NC_000022.10:g.31010378A>G, NG_007263.1:g.12218A>G, NM_000355.4:c.470A>G, NM_000355.3:c.470A>G, NM_001184726.2:c.389A>G, NM_001184726.1:c.389A>G, NM_001190420.1:c.467A>G, NP_000346.2:p.Tyr157Cys, NP_001171655.1:p.Tyr130Cys

Select item 146876194015.

rs1468761940 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:30615304 (GRCh38)
22:31011291 (GRCh37)
Canonical SPDI:: NC_000022.11:30615300:ACACA:ACA
Gene:: TCN2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.30615302CA[1], NC_000022.10:g.31011289CA[1], NG_007263.1:g.13129CA[1], NM_000355.4:c.584_585del, NM_000355.3:c.584_585del, NM_001184726.2:c.503_504del, NM_001184726.1:c.503_504del, NM_001190420.1:c.581_582del, NP_000346.2:p.Thr195fs, NP_001171655.1:p.Thr168fs

Select item 146544472316.

rs1465444723 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:30610886 (GRCh38)
22:31006873 (GRCh37)
Canonical SPDI:: NC_000022.11:30610885:A:G
Gene:: TCN2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.30610886A>G, NC_000022.10:g.31006873A>G, NG_007263.1:g.8713A>G, NM_000355.4:c.80A>G, NM_000355.3:c.80A>G, NM_001184726.2:c.80A>G, NM_001184726.1:c.80A>G, NM_001190420.1:c.77A>G, NP_000346.2:p.Asp27Gly, NP_001171655.1:p.Asp27Gly

Select item 146197324117.

rs1461973241 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:30615718 (GRCh38)
22:31011705 (GRCh37)
Canonical SPDI:: NC_000022.11:30615717:C:T
Gene:: TCN2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.30615718C>T, NC_000022.10:g.31011705C>T, NG_007263.1:g.13545C>T, NM_000355.4:c.871C>T, NM_000355.3:c.871C>T, NM_001184726.2:c.790C>T, NM_001184726.1:c.790C>T, NM_001190420.1:c.868C>T, NP_000346.2:p.Gln291Ter, NP_001171655.1:p.Gln264Ter

Select item 146079988218.

rs1460799882 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:30615384 (GRCh38)
22:31011371 (GRCh37)
Canonical SPDI:: NC_000022.11:30615383:G:A
Gene:: TCN2 (Varview)
Functional Consequence:: 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)
HGVS:: NC_000022.11:g.30615384G>A, NC_000022.10:g.31011371G>A, NG_007263.1:g.13211G>A, NM_000355.4:c.664G>A, NM_000355.3:c.664G>A, NM_001184726.2:c.583G>A, NM_001184726.1:c.583G>A, NM_001190420.1:c.661G>A, NP_000346.2:p.Ala222Thr, NP_001171655.1:p.Ala195Thr

Select item 145929244819.

rs1459292448 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:30617383 (GRCh38)
22:31013370 (GRCh37)
Canonical SPDI:: NC_000022.11:30617382:G:A
Gene:: TCN2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.30617383G>A, NC_000022.10:g.31013370G>A, NG_007263.1:g.15210G>A, NM_000355.4:c.994G>A, NM_000355.3:c.994G>A, NM_001184726.2:c.913G>A, NM_001184726.1:c.913G>A, NM_001190420.1:c.991G>A, NP_000346.2:p.Val332Ile, NP_001171655.1:p.Val305Ile

Select item 145698311420.

rs1456983114 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:30614483 (GRCh38)
22:31010470 (GRCh37)
Canonical SPDI:: NC_000022.11:30614482:C:T
Gene:: TCN2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Clinical significance:: uncertain-significance,likely-pathogenic,pathogenic
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.30614483C>T, NC_000022.10:g.31010470C>T, NG_007263.1:g.12310C>T, NM_000355.4:c.562C>T, NM_000355.3:c.562C>T, NM_001184726.2:c.481C>T, NM_001184726.1:c.481C>T, NM_001190420.1:c.559C>T, NP_000346.2:p.Gln188Ter, NP_001171655.1:p.Gln161Ter

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