Canonical Allele Identifier: CA413290333

Gene: ALAS2

Linked Data

• MyVariant Identifiers: chrX:g.55035680A>G (hg19) ; chrX:g.55009247A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55009247A>G , CM000685.2:g.55009247A>G	GRCh38
NC_000023.10:g.55035680A>G , CM000685.1:g.55035680A>G	GRCh37
NC_000023.9:g.55052405A>G	NCBI36
NG_008983.1:g.26818T>C
NG_012568.1:g.13901A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650242.1:c.1697T>C MANE Select	ENSP00000497236.1:p.Leu566Pro
ENST00000330807.9:c.1697T>C	ENSP00000332369.5:p.Leu566Pro
ENST00000335854.8:c.1586T>C	ENSP00000337131.4:p.Leu529Pro
ENST00000396198.7:c.1658T>C	ENSP00000379501.3:p.Leu553Pro
ENST00000498636.1:n.825T>C
NM_000032.4:c.1697T>C	NP_000023.2:p.Leu566Pro
NM_001037967.3:c.1586T>C	NP_001033056.1:p.Leu529Pro
NM_001037968.3:c.1658T>C	NP_001033057.1:p.Leu553Pro
XM_005261995.2:c.1769T>C	XP_005262052.1:p.Leu590Pro
XM_011530771.1:c.836T>C	XP_011529073.1:p.Leu279Pro
NM_000032.5:c.1697T>C MANE Select	NP_000023.2:p.Leu566Pro
NM_001037967.4:c.1586T>C	NP_001033056.1:p.Leu529Pro
NM_001037968.4:c.1658T>C	NP_001033057.1:p.Leu553Pro