Canonical Allele Identifier: CA67568023

Gene: SAG

Linked Data

• dbSNP Id: rs985349249
• gnomAD v3: 2-233346726-T-C
• gnomAD v4: 2-233346726-T-C
• MyVariant Identifiers: chr2:g.234255372T>C (hg19) ; chr2:g.233346726T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233346726T>C , CM000664.2:g.233346726T>C	GRCh38
NC_000002.11:g.234255372T>C , CM000664.1:g.234255372T>C	GRCh37
NC_000002.10:g.233920111T>C	NCBI36
NG_009116.1:g.44064T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409110.6:c.1113-81T>C MANE Select	ENSP00000386444.1:n.1113-81T>C
ENST00000409110.5:c.1113-81T>C	ENSP00000386444.1:n.1113-81T>C
ENST00000412969.6:n.2333-81T>C
ENST00000471884.5:n.3144-81T>C
ENST00000474220.5:n.319-81T>C
ENST00000476500.5:n.6412-81T>C
ENST00000492629.1:n.74-81T>C
NM_000541.4:c.1113-81T>C	NP_000532.2:n.1113-81T>C
XM_011511589.1:c.1113-81T>C	XP_011509891.1:n.1113-81T>C
XM_011511590.1:c.1113-81T>C	XP_011509892.1:n.1113-81T>C
XM_011511591.1:c.1103-81T>C	XP_011509893.1:n.1103-81T>C
XM_011511592.1:c.957-81T>C	XP_011509894.1:n.957-81T>C
XM_011511593.1:c.813-81T>C	XP_011509895.1:n.813-81T>C
XM_011511594.1:c.741-81T>C	XP_011509896.1:n.741-81T>C
XM_011511596.1:c.711-81T>C	XP_011509898.1:n.711-81T>C
XM_011511597.1:c.711-81T>C	XP_011509899.1:n.711-81T>C
XR_922978.1:n.1430-81T>C
XR_922979.1:n.1434-81T>C
XR_922980.1:n.1529-81T>C
XM_011511593.3:c.813-81T>C	XP_011509895.1:n.813-81T>C
XM_017004641.1:c.1103-81T>C	XP_016860130.1:n.1103-81T>C
XM_024453036.1:c.701-81T>C	XP_024308804.1:n.701-81T>C
XR_001738882.1:n.1311-81T>C
XR_922980.2:n.1529-81T>C
NM_000541.5:c.1113-81T>C MANE Select	NP_000532.2:n.1113-81T>C