Canonical Allele Identifier: CA351050539

Gene: SAG

Linked Data

• MyVariant Identifiers: chr2:g.234255536A>C (hg19) ; chr2:g.233346890A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233346890A>C , CM000664.2:g.233346890A>C	GRCh38
NC_000002.11:g.234255536A>C , CM000664.1:g.234255536A>C	GRCh37
NC_000002.10:g.233920275A>C	NCBI36
NG_009116.1:g.44228A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409110.6:c.1196A>C MANE Select	ENSP00000386444.1:p.Asp399Ala
ENST00000409110.5:c.1196A>C	ENSP00000386444.1:p.Asp399Ala
ENST00000412969.6:n.2416A>C
ENST00000471884.5:n.3227A>C
ENST00000474220.5:n.402A>C
ENST00000476500.5:n.6495A>C
ENST00000492629.1:n.157A>C
NM_000541.4:c.1196A>C	NP_000532.2:p.Asp399Ala
XM_011511589.1:c.1196A>C	XP_011509891.1:p.Asp399Ala
XM_011511590.1:c.1196A>C	XP_011509892.1:p.Asp399Ala
XM_011511591.1:c.*64A>C	XP_011509893.1:n.*64A>C
XM_011511592.1:c.1040A>C	XP_011509894.1:p.Asp347Ala
XM_011511593.1:c.896A>C	XP_011509895.1:p.Asp299Ala
XM_011511594.1:c.824A>C	XP_011509896.1:p.Asp275Ala
XM_011511596.1:c.794A>C	XP_011509898.1:p.Asp265Ala
XM_011511597.1:c.794A>C	XP_011509899.1:p.Asp265Ala
XR_922978.1:n.1513A>C
XR_922980.1:n.1612A>C
XM_011511593.3:c.896A>C	XP_011509895.1:p.Asp299Ala
XM_017004641.1:c.*64A>C	XP_016860130.1:n.*64A>C
XM_024453036.1:c.*64A>C	XP_024308804.1:n.*64A>C
XR_001738882.1:n.1394A>C
XR_922980.2:n.1612A>C
NM_000541.5:c.1196A>C MANE Select	NP_000532.2:p.Asp399Ala