Canonical Allele Identifier: CA413293546

Gene: ALAS2

Linked Data

• COSMIC: COSM404349
• MyVariant Identifiers: chrX:g.55042082C>G (hg19) ; chrX:g.55015649C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55015649C>G , CM000685.2:g.55015649C>G	GRCh38
NC_000023.10:g.55042082C>G , CM000685.1:g.55042082C>G	GRCh37
NC_000023.9:g.55058807C>G	NCBI36
NG_008983.1:g.20416G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650242.1:c.1097G>C MANE Select	ENSP00000497236.1:p.Gly366Ala
ENST00000330807.9:c.1097G>C	ENSP00000332369.5:p.Gly366Ala
ENST00000335854.8:c.986G>C	ENSP00000337131.4:p.Gly329Ala
ENST00000396198.7:c.1058G>C	ENSP00000379501.3:p.Gly353Ala
ENST00000498636.1:n.388G>C
NM_000032.4:c.1097G>C	NP_000023.2:p.Gly366Ala
NM_001037967.3:c.986G>C	NP_001033056.1:p.Gly329Ala
NM_001037968.3:c.1058G>C	NP_001033057.1:p.Gly353Ala
XM_005261995.2:c.1169G>C	XP_005262052.1:p.Gly390Ala
XM_011530771.1:c.236G>C	XP_011529073.1:p.Gly79Ala
NM_000032.5:c.1097G>C MANE Select	NP_000023.2:p.Gly366Ala
NM_001037967.4:c.986G>C	NP_001033056.1:p.Gly329Ala
NM_001037968.4:c.1058G>C	NP_001033057.1:p.Gly353Ala