Canonical Allele Identifier: CA413295427

Gene: ALAS2

Linked Data

• MyVariant Identifiers: chrX:g.55047519T>G (hg19) ; chrX:g.55021086T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55021086T>G , CM000685.2:g.55021086T>G	GRCh38
NC_000023.10:g.55047519T>G , CM000685.1:g.55047519T>G	GRCh37
NC_000023.9:g.55064244T>G	NCBI36
NG_008983.1:g.14979A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000455688.2:c.388A>C	ENSP00000407204.2:p.Met130Leu
ENST00000477869.6:c.277A>C	ENSP00000496725.1:p.Met93Leu
ENST00000493869.2:c.305-582A>C	ENSP00000495713.1:n.305-582A>C
ENST00000650242.1:c.604A>C MANE Select	ENSP00000497236.1:p.Met202Leu
ENST00000330807.9:c.604A>C	ENSP00000332369.5:p.Met202Leu
ENST00000335854.8:c.493A>C	ENSP00000337131.4:p.Met165Leu
ENST00000396198.7:c.565A>C	ENSP00000379501.3:p.Met189Leu
ENST00000455688.1:c.459A>C
ENST00000463868.5:n.356-582A>C
ENST00000477869.5:n.348A>C
ENST00000493869.1:n.544A>C
NM_000032.4:c.604A>C	NP_000023.2:p.Met202Leu
NM_001037967.3:c.493A>C	NP_001033056.1:p.Met165Leu
NM_001037968.3:c.565A>C	NP_001033057.1:p.Met189Leu
XM_005261995.2:c.676A>C	XP_005262052.1:p.Met226Leu
XM_011530771.1:c.-223-582A>C	XP_011529073.1:n.-223-582A>C
NM_000032.5:c.604A>C MANE Select	NP_000023.2:p.Met202Leu
NM_001037967.4:c.493A>C	NP_001033056.1:p.Met165Leu
NM_001037968.4:c.565A>C	NP_001033057.1:p.Met189Leu