Canonical Allele Identifier: CA431825558

Gene: SAG

Linked Data

• MyVariant Identifiers: chr2:g.234255456T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233346810T>C , CM000664.2:g.233346810T>C	GRCh38
NC_000002.11:g.234255456T>C , CM000664.1:g.234255456T>C	GRCh37
NC_000002.10:g.233920195T>C	NCBI36
NG_009116.1:g.44148T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409110.6:c.1116T>C MANE Select	ENSP00000386444.1:p.Tyr372=
ENST00000409110.5:c.1116T>C	ENSP00000386444.1:p.Tyr372=
ENST00000412969.6:n.2336T>C
ENST00000471884.5:n.3147T>C
ENST00000474220.5:n.322T>C
ENST00000476500.5:n.6415T>C
ENST00000492629.1:n.77T>C
NM_000541.4:c.1116T>C	NP_000532.2:p.Tyr372=
XM_011511589.1:c.1116T>C	XP_011509891.1:p.Tyr372=
XM_011511590.1:c.1116T>C	XP_011509892.1:p.Tyr372=
XM_011511591.1:c.1106T>C	XP_011509893.1:p.Ile369Thr
XM_011511592.1:c.960T>C	XP_011509894.1:p.Tyr320=
XM_011511593.1:c.816T>C	XP_011509895.1:p.Tyr272=
XM_011511594.1:c.744T>C	XP_011509896.1:p.Tyr248=
XM_011511596.1:c.714T>C	XP_011509898.1:p.Tyr238=
XM_011511597.1:c.714T>C	XP_011509899.1:p.Tyr238=
XR_922978.1:n.1433T>C
XR_922979.1:n.1437T>C
XR_922980.1:n.1532T>C
XM_011511593.3:c.816T>C	XP_011509895.1:p.Tyr272=
XM_017004641.1:c.1106T>C	XP_016860130.1:p.Ile369Thr
XM_024453036.1:c.704T>C	XP_024308804.1:p.Ile235Thr
XR_001738882.1:n.1314T>C
XR_922980.2:n.1532T>C
NM_000541.5:c.1116T>C MANE Select	NP_000532.2:p.Tyr372=