Canonical Allele Identifier: CA2174578

Gene: SAG

Linked Data

• dbSNP Id: rs775466897
• ExAC: 2:234243739 G / A
• gnomAD v2: 2-234243739-G-A
• gnomAD v4: 2-233335093-G-A
• MyVariant Identifiers: chr2:g.234243739G>A (hg19) ; chr2:g.233335093G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233335093G>A , CM000664.2:g.233335093G>A	GRCh38
NC_000002.11:g.234243739G>A , CM000664.1:g.234243739G>A	GRCh37
NC_000002.10:g.233908478G>A	NCBI36
NG_009116.1:g.32431G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409110.6:c.938G>A MANE Select	ENSP00000386444.1:p.Ser313Asn
ENST00000409110.5:c.938G>A	ENSP00000386444.1:p.Ser313Asn
ENST00000412969.6:n.2158G>A
ENST00000469222.5:n.955G>A
ENST00000471884.5:n.2969G>A
ENST00000473771.1:n.378G>A
ENST00000476500.5:n.6237G>A
ENST00000483231.5:n.322G>A
NM_000541.4:c.938G>A	NP_000532.2:p.Ser313Asn
XM_011511589.1:c.938G>A	XP_011509891.1:p.Ser313Asn
XM_011511590.1:c.938G>A	XP_011509892.1:p.Ser313Asn
XM_011511591.1:c.938G>A	XP_011509893.1:p.Ser313Asn
XM_011511592.1:c.782G>A	XP_011509894.1:p.Ser261Asn
XM_011511593.1:c.638G>A	XP_011509895.1:p.Ser213Asn
XM_011511594.1:c.566G>A	XP_011509896.1:p.Ser189Asn
XM_011511596.1:c.536G>A	XP_011509898.1:p.Ser179Asn
XM_011511597.1:c.536G>A	XP_011509899.1:p.Ser179Asn
XR_922978.1:n.1134G>A
XR_922979.1:n.1134G>A
XR_922980.1:n.1233G>A
XM_011511593.3:c.638G>A	XP_011509895.1:p.Ser213Asn
XM_017004641.1:c.938G>A	XP_016860130.1:p.Ser313Asn
XM_017004642.1:c.938G>A	XP_016860131.1:p.Ser313Asn
XM_024453036.1:c.536G>A	XP_024308804.1:p.Ser179Asn
XR_001738882.1:n.1015G>A
XR_922980.2:n.1233G>A
NM_000541.5:c.938G>A MANE Select	NP_000532.2:p.Ser313Asn