Canonical Allele Identifier: CA413294535

Gene: ALAS2

Linked Data

• MyVariant Identifiers: chrX:g.55044039T>G (hg19) ; chrX:g.55017606T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55017606T>G , CM000685.2:g.55017606T>G	GRCh38
NC_000023.10:g.55044039T>G , CM000685.1:g.55044039T>G	GRCh37
NC_000023.9:g.55060764T>G	NCBI36
NG_008983.1:g.18459A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000650242.1:c.883A>C MANE Select	ENSP00000497236.1:p.Ser295Arg
ENST00000330807.9:c.883A>C	ENSP00000332369.5:p.Ser295Arg
ENST00000335854.8:c.772A>C	ENSP00000337131.4:p.Ser258Arg
ENST00000396198.7:c.844A>C	ENSP00000379501.3:p.Ser282Arg
ENST00000463868.5:n.600A>C
ENST00000498636.1:n.174A>C
NM_000032.4:c.883A>C	NP_000023.2:p.Ser295Arg
NM_001037967.3:c.772A>C	NP_001033056.1:p.Ser258Arg
NM_001037968.3:c.844A>C	NP_001033057.1:p.Ser282Arg
XM_005261995.2:c.955A>C	XP_005262052.1:p.Ser319Arg
XM_011530771.1:c.22A>C	XP_011529073.1:p.Ser8Arg
NM_000032.5:c.883A>C MANE Select	NP_000023.2:p.Ser295Arg
NM_001037967.4:c.772A>C	NP_001033056.1:p.Ser258Arg
NM_001037968.4:c.844A>C	NP_001033057.1:p.Ser282Arg