Canonical Allele Identifier: CA351050233

Gene: SAG

Linked Data

• MyVariant Identifiers: chr2:g.234255451A>C (hg19) ; chr2:g.233346805A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233346805A>C , CM000664.2:g.233346805A>C	GRCh38
NC_000002.11:g.234255451A>C , CM000664.1:g.234255451A>C	GRCh37
NC_000002.10:g.233920190A>C	NCBI36
NG_009116.1:g.44143A>C

Transcript Alleles

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