Canonical Allele Identifier: CA2174722

Gene: SAG

Linked Data

• ClinVar Variation Id: 335074
• ClinVar RCV Id: RCV000344193 ; RCV000396577 ; RCV001516912 ; RCV003888789
• dbSNP Id: rs1046976
• ExAC: 2:234255548 T / C
• gnomAD v2: 2-234255548-T-C
• gnomAD v3: 2-233346902-T-C
• gnomAD v4: 2-233346902-T-C
• MyVariant Identifiers: chr2:g.234255548T>C (hg19) ; chr2:g.233346902T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233346902T>C , CM000664.2:g.233346902T>C	GRCh38
NC_000002.11:g.234255548T>C , CM000664.1:g.234255548T>C	GRCh37
NC_000002.10:g.233920287T>C	NCBI36
NG_009116.1:g.44240T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409110.6:c.1208T>C MANE Select	ENSP00000386444.1:p.Val403Ala
ENST00000409110.5:c.1208T>C	ENSP00000386444.1:p.Val403Ala
ENST00000412969.6:n.2428T>C
ENST00000471884.5:n.3239T>C
ENST00000474220.5:n.414T>C
ENST00000476500.5:n.6507T>C
ENST00000492629.1:n.169T>C
NM_000541.4:c.1208T>C	NP_000532.2:p.Val403Ala
XM_011511589.1:c.1208T>C	XP_011509891.1:p.Val403Ala
XM_011511590.1:c.1208T>C	XP_011509892.1:p.Val403Ala
XM_011511591.1:c.*76T>C	XP_011509893.1:n.*76T>C
XM_011511592.1:c.1052T>C	XP_011509894.1:p.Val351Ala
XM_011511593.1:c.908T>C	XP_011509895.1:p.Val303Ala
XM_011511594.1:c.836T>C	XP_011509896.1:p.Val279Ala
XM_011511596.1:c.806T>C	XP_011509898.1:p.Val269Ala
XM_011511597.1:c.806T>C	XP_011509899.1:p.Val269Ala
XR_922978.1:n.1525T>C
XR_922980.1:n.1624T>C
XM_011511593.3:c.908T>C	XP_011509895.1:p.Val303Ala
XM_017004641.1:c.*76T>C	XP_016860130.1:n.*76T>C
XM_024453036.1:c.*76T>C	XP_024308804.1:n.*76T>C
XR_001738882.1:n.1406T>C
XR_922980.2:n.1624T>C
NM_000541.5:c.1208T>C MANE Select	NP_000532.2:p.Val403Ala