Canonical Allele Identifier: CA413295431

Gene: ALAS2

Linked Data

• MyVariant Identifiers: chrX:g.55047522C>A (hg19) ; chrX:g.55021089C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55021089C>A , CM000685.2:g.55021089C>A	GRCh38
NC_000023.10:g.55047522C>A , CM000685.1:g.55047522C>A	GRCh37
NC_000023.9:g.55064247C>A	NCBI36
NG_008983.1:g.14976G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455688.2:c.385G>T	ENSP00000407204.2:p.Gly129Cys
ENST00000477869.6:c.274G>T	ENSP00000496725.1:p.Gly92Cys
ENST00000493869.2:c.305-585G>T	ENSP00000495713.1:n.305-585G>T
ENST00000650242.1:c.601G>T MANE Select	ENSP00000497236.1:p.Gly201Cys
ENST00000330807.9:c.601G>T	ENSP00000332369.5:p.Gly201Cys
ENST00000335854.8:c.490G>T	ENSP00000337131.4:p.Gly164Cys
ENST00000396198.7:c.562G>T	ENSP00000379501.3:p.Gly188Cys
ENST00000455688.1:c.456G>T
ENST00000463868.5:n.356-585G>T
ENST00000477869.5:n.345G>T
ENST00000493869.1:n.541G>T
NM_000032.4:c.601G>T	NP_000023.2:p.Gly201Cys
NM_001037967.3:c.490G>T	NP_001033056.1:p.Gly164Cys
NM_001037968.3:c.562G>T	NP_001033057.1:p.Gly188Cys
XM_005261995.2:c.673G>T	XP_005262052.1:p.Gly225Cys
XM_011530771.1:c.-223-585G>T	XP_011529073.1:n.-223-585G>T
NM_000032.5:c.601G>T MANE Select	NP_000023.2:p.Gly201Cys
NM_001037967.4:c.490G>T	NP_001033056.1:p.Gly164Cys
NM_001037968.4:c.562G>T	NP_001033057.1:p.Gly188Cys