Canonical Allele Identifier: CA351050264

Gene: SAG

Linked Data

• MyVariant Identifiers: chr2:g.234255463G>C (hg19) ; chr2:g.233346817G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233346817G>C , CM000664.2:g.233346817G>C	GRCh38
NC_000002.11:g.234255463G>C , CM000664.1:g.234255463G>C	GRCh37
NC_000002.10:g.233920202G>C	NCBI36
NG_009116.1:g.44155G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409110.6:c.1123G>C MANE Select	ENSP00000386444.1:p.Ala375Pro
ENST00000409110.5:c.1123G>C	ENSP00000386444.1:p.Ala375Pro
ENST00000412969.6:n.2343G>C
ENST00000471884.5:n.3154G>C
ENST00000474220.5:n.329G>C
ENST00000476500.5:n.6422G>C
ENST00000492629.1:n.84G>C
NM_000541.4:c.1123G>C	NP_000532.2:p.Ala375Pro
XM_011511589.1:c.1123G>C	XP_011509891.1:p.Ala375Pro
XM_011511590.1:c.1123G>C	XP_011509892.1:p.Ala375Pro
XM_011511591.1:c.1113G>C	XP_011509893.1:p.Met371Ile
XM_011511592.1:c.967G>C	XP_011509894.1:p.Ala323Pro
XM_011511593.1:c.823G>C	XP_011509895.1:p.Ala275Pro
XM_011511594.1:c.751G>C	XP_011509896.1:p.Ala251Pro
XM_011511596.1:c.721G>C	XP_011509898.1:p.Ala241Pro
XM_011511597.1:c.721G>C	XP_011509899.1:p.Ala241Pro
XR_922978.1:n.1440G>C
XR_922979.1:n.1444G>C
XR_922980.1:n.1539G>C
XM_011511593.3:c.823G>C	XP_011509895.1:p.Ala275Pro
XM_017004641.1:c.1113G>C	XP_016860130.1:p.Met371Ile
XM_024453036.1:c.711G>C	XP_024308804.1:p.Met237Ile
XR_001738882.1:n.1321G>C
XR_922980.2:n.1539G>C
NM_000541.5:c.1123G>C MANE Select	NP_000532.2:p.Ala375Pro