Canonical Allele Identifier: CA2430390704

Gene: ALAS2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55015586C= , CM000685.2:g.55015586C=	GRCh38
NC_000023.10:g.55042019C= , CM000685.1:g.55042019C=	GRCh37
NC_000023.9:g.55058744C=	NCBI36
NG_008983.1:g.20479G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650242.1:c.1160G= MANE Select	ENSP00000497236.1:p.Gly387=
ENST00000330807.9:c.1160G=	ENSP00000332369.5:p.Gly387=
ENST00000335854.8:c.1049G=	ENSP00000337131.4:p.Gly350=
ENST00000396198.7:c.1121G=	ENSP00000379501.3:p.Gly374=
ENST00000498636.1:n.451G=
NM_000032.4:c.1160G=	NP_000023.2:p.Gly387=
NM_001037967.3:c.1049G=	NP_001033056.1:p.Gly350=
NM_001037968.3:c.1121G=	NP_001033057.1:p.Gly374=
XM_005261995.2:c.1232G=	XP_005262052.1:p.Gly411=
XM_011530771.1:c.299G=	XP_011529073.1:p.Gly100=
NM_000032.5:c.1160G= MANE Select	NP_000023.2:p.Gly387=
NM_001037967.4:c.1049G=	NP_001033056.1:p.Gly350=
NM_001037968.4:c.1121G=	NP_001033057.1:p.Gly374=