Canonical Allele Identifier: CA67568134

Gene: SAG

Linked Data

• dbSNP Id: rs923713049
• gnomAD v4: 2-233346818-C-T
• MyVariant Identifiers: chr2:g.234255464C>T (hg19) ; chr2:g.233346818C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233346818C>T , CM000664.2:g.233346818C>T	GRCh38
NC_000002.11:g.234255464C>T , CM000664.1:g.234255464C>T	GRCh37
NC_000002.10:g.233920203C>T	NCBI36
NG_009116.1:g.44156C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409110.6:c.1124C>T MANE Select	ENSP00000386444.1:p.Ala375Val
ENST00000409110.5:c.1124C>T	ENSP00000386444.1:p.Ala375Val
ENST00000412969.6:n.2344C>T
ENST00000471884.5:n.3155C>T
ENST00000474220.5:n.330C>T
ENST00000476500.5:n.6423C>T
ENST00000492629.1:n.85C>T
NM_000541.4:c.1124C>T	NP_000532.2:p.Ala375Val
XM_011511589.1:c.1124C>T	XP_011509891.1:p.Ala375Val
XM_011511590.1:c.1124C>T	XP_011509892.1:p.Ala375Val
XM_011511591.1:c.1114C>T	XP_011509893.1:p.Gln372Ter
XM_011511592.1:c.968C>T	XP_011509894.1:p.Ala323Val
XM_011511593.1:c.824C>T	XP_011509895.1:p.Ala275Val
XM_011511594.1:c.752C>T	XP_011509896.1:p.Ala251Val
XM_011511596.1:c.722C>T	XP_011509898.1:p.Ala241Val
XM_011511597.1:c.722C>T	XP_011509899.1:p.Ala241Val
XR_922978.1:n.1441C>T
XR_922979.1:n.1445C>T
XR_922980.1:n.1540C>T
XM_011511593.3:c.824C>T	XP_011509895.1:p.Ala275Val
XM_017004641.1:c.1114C>T	XP_016860130.1:p.Gln372Ter
XM_024453036.1:c.712C>T	XP_024308804.1:p.Gln238Ter
XR_001738882.1:n.1322C>T
XR_922980.2:n.1540C>T
NM_000541.5:c.1124C>T MANE Select	NP_000532.2:p.Ala375Val