Canonical Allele Identifier: CA2174700

Gene: SAG

Linked Data

• dbSNP Id: rs765530382
• ExAC: 2:234255415 G / A
• gnomAD v2: 2-234255415-G-A
• gnomAD v4: 2-233346769-G-A
• MyVariant Identifiers: chr2:g.234255415G>A (hg19) ; chr2:g.233346769G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233346769G>A , CM000664.2:g.233346769G>A	GRCh38
NC_000002.11:g.234255415G>A , CM000664.1:g.234255415G>A	GRCh37
NC_000002.10:g.233920154G>A	NCBI36
NG_009116.1:g.44107G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409110.6:c.1113-38G>A MANE Select	ENSP00000386444.1:n.1113-38G>A
ENST00000409110.5:c.1113-38G>A	ENSP00000386444.1:n.1113-38G>A
ENST00000412969.6:n.2333-38G>A
ENST00000471884.5:n.3144-38G>A
ENST00000474220.5:n.319-38G>A
ENST00000476500.5:n.6412-38G>A
ENST00000492629.1:n.74-38G>A
NM_000541.4:c.1113-38G>A	NP_000532.2:n.1113-38G>A
XM_011511589.1:c.1113-38G>A	XP_011509891.1:n.1113-38G>A
XM_011511590.1:c.1113-38G>A	XP_011509892.1:n.1113-38G>A
XM_011511591.1:c.1103-38G>A	XP_011509893.1:n.1103-38G>A
XM_011511592.1:c.957-38G>A	XP_011509894.1:n.957-38G>A
XM_011511593.1:c.813-38G>A	XP_011509895.1:n.813-38G>A
XM_011511594.1:c.741-38G>A	XP_011509896.1:n.741-38G>A
XM_011511596.1:c.711-38G>A	XP_011509898.1:n.711-38G>A
XM_011511597.1:c.711-38G>A	XP_011509899.1:n.711-38G>A
XR_922978.1:n.1430-38G>A
XR_922979.1:n.1434-38G>A
XR_922980.1:n.1529-38G>A
XM_011511593.3:c.813-38G>A	XP_011509895.1:n.813-38G>A
XM_017004641.1:c.1103-38G>A	XP_016860130.1:n.1103-38G>A
XM_024453036.1:c.701-38G>A	XP_024308804.1:n.701-38G>A
XR_001738882.1:n.1311-38G>A
XR_922980.2:n.1529-38G>A
NM_000541.5:c.1113-38G>A MANE Select	NP_000532.2:n.1113-38G>A