Canonical Allele Identifier: CA10428395

Gene: ALAS2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55020490C>T , CM000685.2:g.55020490C>T	GRCh38
NC_000023.10:g.55046923C>T , CM000685.1:g.55046923C>T	GRCh37
NC_000023.9:g.55063648C>T	NCBI36
NG_008983.1:g.15575G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000032.5:c.653G>A MANE Select	NP_000023.2:p.Arg218His
ENST00000650242.1:c.653G>A MANE Select	ENSP00000497236.1:p.Arg218His
NM_000032.4:c.653G>A	NP_000023.2:p.Arg218His
NM_001037967.3:c.542G>A	NP_001033056.1:p.Arg181His
NM_001037967.4:c.542G>A	NP_001033056.1:p.Arg181His
NM_001037968.3:c.614G>A	NP_001033057.1:p.Arg205His
NM_001037968.4:c.614G>A	NP_001033057.1:p.Arg205His
ENST00000330807.9:c.653G>A	ENSP00000332369.5:p.Arg218His
ENST00000335854.8:c.542G>A	ENSP00000337131.4:p.Arg181His
ENST00000396198.7:c.614G>A	ENSP00000379501.3:p.Arg205His
ENST00000455688.1:c.508G>A
ENST00000455688.2:c.437G>A	ENSP00000407204.2:p.Arg146His
ENST00000463868.5:n.370G>A
ENST00000477869.5:n.397G>A
ENST00000477869.6:c.326G>A	ENSP00000496725.1:p.Arg109His
ENST00000493869.1:n.593G>A
ENST00000493869.2:c.319G>A	ENSP00000495713.1:p.Val107Ile
XM_005261995.2:c.725G>A	XP_005262052.1:p.Arg242His
XM_011530771.1:c.-209G>A	XP_011529073.1:n.-209G>A