Canonical Allele Identifier: CA431825556

Gene: SAG

Linked Data

• dbSNP Id: rs1701265897
• MyVariant Identifiers: chr2:g.234255453T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233346807T>C , CM000664.2:g.233346807T>C	GRCh38
NC_000002.11:g.234255453T>C , CM000664.1:g.234255453T>C	GRCh37
NC_000002.10:g.233920192T>C	NCBI36
NG_009116.1:g.44145T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409110.6:c.1113T>C MANE Select	ENSP00000386444.1:p.Ser371=
ENST00000409110.5:c.1113T>C	ENSP00000386444.1:p.Ser371=
ENST00000412969.6:n.2333T>C
ENST00000471884.5:n.3144T>C
ENST00000474220.5:n.319T>C
ENST00000476500.5:n.6412T>C
ENST00000492629.1:n.74T>C
NM_000541.4:c.1113T>C	NP_000532.2:p.Ser371=
XM_011511589.1:c.1113T>C	XP_011509891.1:p.Ser371=
XM_011511590.1:c.1113T>C	XP_011509892.1:p.Ser371=
XM_011511591.1:c.1103T>C	XP_011509893.1:p.Val368Ala
XM_011511592.1:c.957T>C	XP_011509894.1:p.Ser319=
XM_011511593.1:c.813T>C	XP_011509895.1:p.Ser271=
XM_011511594.1:c.741T>C	XP_011509896.1:p.Ser247=
XM_011511596.1:c.711T>C	XP_011509898.1:p.Ser237=
XM_011511597.1:c.711T>C	XP_011509899.1:p.Ser237=
XR_922978.1:n.1430T>C
XR_922979.1:n.1434T>C
XR_922980.1:n.1529T>C
XM_011511593.3:c.813T>C	XP_011509895.1:p.Ser271=
XM_017004641.1:c.1103T>C	XP_016860130.1:p.Val368Ala
XM_024453036.1:c.701T>C	XP_024308804.1:p.Val234Ala
XR_001738882.1:n.1311T>C
XR_922980.2:n.1529T>C
NM_000541.5:c.1113T>C MANE Select	NP_000532.2:p.Ser371=