Canonical Allele Identifier: CA67568170

Gene: SAG

Linked Data

• dbSNP Id: rs544647850
• gnomAD v3: 2-233346871-G-A
• gnomAD v4: 2-233346871-G-A
• MyVariant Identifiers: chr2:g.234255517G>A (hg19) ; chr2:g.233346871G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233346871G>A , CM000664.2:g.233346871G>A	GRCh38
NC_000002.11:g.234255517G>A , CM000664.1:g.234255517G>A	GRCh37
NC_000002.10:g.233920256G>A	NCBI36
NG_009116.1:g.44209G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409110.6:c.1177G>A MANE Select	ENSP00000386444.1:p.Ala393Thr
ENST00000409110.5:c.1177G>A	ENSP00000386444.1:p.Ala393Thr
ENST00000412969.6:n.2397G>A
ENST00000471884.5:n.3208G>A
ENST00000474220.5:n.383G>A
ENST00000476500.5:n.6476G>A
ENST00000492629.1:n.138G>A
NM_000541.4:c.1177G>A	NP_000532.2:p.Ala393Thr
XM_011511589.1:c.1177G>A	XP_011509891.1:p.Ala393Thr
XM_011511590.1:c.1177G>A	XP_011509892.1:p.Ala393Thr
XM_011511591.1:c.*45G>A	XP_011509893.1:n.*45G>A
XM_011511592.1:c.1021G>A	XP_011509894.1:p.Ala341Thr
XM_011511593.1:c.877G>A	XP_011509895.1:p.Ala293Thr
XM_011511594.1:c.805G>A	XP_011509896.1:p.Ala269Thr
XM_011511596.1:c.775G>A	XP_011509898.1:p.Ala259Thr
XM_011511597.1:c.775G>A	XP_011509899.1:p.Ala259Thr
XR_922978.1:n.1494G>A
XR_922980.1:n.1593G>A
XM_011511593.3:c.877G>A	XP_011509895.1:p.Ala293Thr
XM_017004641.1:c.*45G>A	XP_016860130.1:n.*45G>A
XM_024453036.1:c.*45G>A	XP_024308804.1:n.*45G>A
XR_001738882.1:n.1375G>A
XR_922980.2:n.1593G>A
NM_000541.5:c.1177G>A MANE Select	NP_000532.2:p.Ala393Thr