Canonical Allele Identifier: CA413295423

Gene: ALAS2

Linked Data

• MyVariant Identifiers: chrX:g.55047518A>T (hg19) ; chrX:g.55021085A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55021085A>T , CM000685.2:g.55021085A>T	GRCh38
NC_000023.10:g.55047518A>T , CM000685.1:g.55047518A>T	GRCh37
NC_000023.9:g.55064243A>T	NCBI36
NG_008983.1:g.14980T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455688.2:c.389T>A	ENSP00000407204.2:p.Met130Lys
ENST00000477869.6:c.278T>A	ENSP00000496725.1:p.Met93Lys
ENST00000493869.2:c.305-581T>A	ENSP00000495713.1:n.305-581T>A
ENST00000650242.1:c.605T>A MANE Select	ENSP00000497236.1:p.Met202Lys
ENST00000330807.9:c.605T>A	ENSP00000332369.5:p.Met202Lys
ENST00000335854.8:c.494T>A	ENSP00000337131.4:p.Met165Lys
ENST00000396198.7:c.566T>A	ENSP00000379501.3:p.Met189Lys
ENST00000455688.1:c.460T>A
ENST00000463868.5:n.356-581T>A
ENST00000477869.5:n.349T>A
ENST00000493869.1:n.545T>A
NM_000032.4:c.605T>A	NP_000023.2:p.Met202Lys
NM_001037967.3:c.494T>A	NP_001033056.1:p.Met165Lys
NM_001037968.3:c.566T>A	NP_001033057.1:p.Met189Lys
XM_005261995.2:c.677T>A	XP_005262052.1:p.Met226Lys
XM_011530771.1:c.-223-581T>A	XP_011529073.1:n.-223-581T>A
NM_000032.5:c.605T>A MANE Select	NP_000023.2:p.Met202Lys
NM_001037967.4:c.494T>A	NP_001033056.1:p.Met165Lys
NM_001037968.4:c.566T>A	NP_001033057.1:p.Met189Lys