Canonical Allele Identifier: CA351050597

Gene: SAG

Linked Data

• gnomAD v4: 2-233346900-C-A
• MyVariant Identifiers: chr2:g.234255546C>A (hg19) ; chr2:g.233346900C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233346900C>A , CM000664.2:g.233346900C>A	GRCh38
NC_000002.11:g.234255546C>A , CM000664.1:g.234255546C>A	GRCh37
NC_000002.10:g.233920285C>A	NCBI36
NG_009116.1:g.44238C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409110.6:c.1206C>A MANE Select	ENSP00000386444.1:p.Asp402Glu
ENST00000409110.5:c.1206C>A	ENSP00000386444.1:p.Asp402Glu
ENST00000412969.6:n.2426C>A
ENST00000471884.5:n.3237C>A
ENST00000474220.5:n.412C>A
ENST00000476500.5:n.6505C>A
ENST00000492629.1:n.167C>A
NM_000541.4:c.1206C>A	NP_000532.2:p.Asp402Glu
XM_011511589.1:c.1206C>A	XP_011509891.1:p.Asp402Glu
XM_011511590.1:c.1206C>A	XP_011509892.1:p.Asp402Glu
XM_011511591.1:c.*74C>A	XP_011509893.1:n.*74C>A
XM_011511592.1:c.1050C>A	XP_011509894.1:p.Asp350Glu
XM_011511593.1:c.906C>A	XP_011509895.1:p.Asp302Glu
XM_011511594.1:c.834C>A	XP_011509896.1:p.Asp278Glu
XM_011511596.1:c.804C>A	XP_011509898.1:p.Asp268Glu
XM_011511597.1:c.804C>A	XP_011509899.1:p.Asp268Glu
XR_922978.1:n.1523C>A
XR_922980.1:n.1622C>A
XM_011511593.3:c.906C>A	XP_011509895.1:p.Asp302Glu
XM_017004641.1:c.*74C>A	XP_016860130.1:n.*74C>A
XM_024453036.1:c.*74C>A	XP_024308804.1:n.*74C>A
XR_001738882.1:n.1404C>A
XR_922980.2:n.1622C>A
NM_000541.5:c.1206C>A MANE Select	NP_000532.2:p.Asp402Glu