Canonical Allele Identifier: CA2430392616

Gene: ALAS2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55021095A= , CM000685.2:g.55021095A=	GRCh38
NC_000023.10:g.55047528A= , CM000685.1:g.55047528A=	GRCh37
NC_000023.9:g.55064253A=	NCBI36
NG_008983.1:g.14970T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000455688.2:c.379T=	ENSP00000407204.2:p.Tyr127=
ENST00000477869.6:c.268T=	ENSP00000496725.1:p.Tyr90=
ENST00000493869.2:c.305-591T=	ENSP00000495713.1:n.305-591T=
ENST00000650242.1:c.595T= MANE Select	ENSP00000497236.1:p.Tyr199=
ENST00000330807.9:c.595T=	ENSP00000332369.5:p.Tyr199=
ENST00000335854.8:c.484T=	ENSP00000337131.4:p.Tyr162=
ENST00000396198.7:c.556T=	ENSP00000379501.3:p.Tyr186=
ENST00000455688.1:c.450T=
ENST00000463868.5:n.356-591T=
ENST00000477869.5:n.339T=
ENST00000493869.1:n.535T=
NM_000032.4:c.595T=	NP_000023.2:p.Tyr199=
NM_001037967.3:c.484T=	NP_001033056.1:p.Tyr162=
NM_001037968.3:c.556T=	NP_001033057.1:p.Tyr186=
XM_005261995.2:c.667T=	XP_005262052.1:p.Tyr223=
XM_011530771.1:c.-223-591T=	XP_011529073.1:n.-223-591T=
NM_000032.5:c.595T= MANE Select	NP_000023.2:p.Tyr199=
NM_001037967.4:c.484T=	NP_001033056.1:p.Tyr162=
NM_001037968.4:c.556T=	NP_001033057.1:p.Tyr186=