Canonical Allele Identifier: CA2430392622

Gene: ALAS2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55021121T= , CM000685.2:g.55021121T=	GRCh38
NC_000023.10:g.55047554T= , CM000685.1:g.55047554T=	GRCh37
NC_000023.9:g.55064279T=	NCBI36
NG_008983.1:g.14944A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000032.5:c.569A= MANE Select	NP_000023.2:p.Asp190=
ENST00000650242.1:c.569A= MANE Select	ENSP00000497236.1:p.Asp190=
NM_000032.4:c.569A=	NP_000023.2:p.Asp190=
NM_001037967.3:c.458A=	NP_001033056.1:p.Asp153=
NM_001037967.4:c.458A=	NP_001033056.1:p.Asp153=
NM_001037968.3:c.530A=	NP_001033057.1:p.Asp177=
NM_001037968.4:c.530A=	NP_001033057.1:p.Asp177=
ENST00000330807.9:c.569A=	ENSP00000332369.5:p.Asp190=
ENST00000335854.8:c.458A=	ENSP00000337131.4:p.Asp153=
ENST00000396198.7:c.530A=	ENSP00000379501.3:p.Asp177=
ENST00000455688.1:c.424A=
ENST00000455688.2:c.353A=	ENSP00000407204.2:p.Asp118=
ENST00000463868.5:n.356-617A=
ENST00000477869.5:n.313A=
ENST00000477869.6:c.242A=	ENSP00000496725.1:p.Asp81=
ENST00000493869.1:n.509A=
ENST00000493869.2:c.305-617A=	ENSP00000495713.1:n.305-617A=
XM_005261995.2:c.641A=	XP_005262052.1:p.Asp214=
XM_011530771.1:c.-223-617A=	XP_011529073.1:n.-223-617A=