Canonical Allele Identifier: CA2430391393
Gene: ALAS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.55017594T= , CM000685.2:g.55017594T= GRCh38
NC_000023.10:g.55044027T= , CM000685.1:g.55044027T= GRCh37
NC_000023.9:g.55060752T= NCBI36
NG_008983.1:g.18471A=

Transcript Alleles

HGVS Amino-acid change
ENST00000650242.1:c.895A= MANE Select ENSP00000497236.1:p.Lys299=
ENST00000330807.9:c.895A= ENSP00000332369.5:p.Lys299=
ENST00000335854.8:c.784A= ENSP00000337131.4:p.Lys262=
ENST00000396198.7:c.856A= ENSP00000379501.3:p.Lys286=
ENST00000463868.5:n.612A=
ENST00000498636.1:n.186A=
NM_000032.4:c.895A= NP_000023.2:p.Lys299=
NM_001037967.3:c.784A= NP_001033056.1:p.Lys262=
NM_001037968.3:c.856A= NP_001033057.1:p.Lys286=
XM_005261995.2:c.967A= XP_005262052.1:p.Lys323=
XM_011530771.1:c.34A= XP_011529073.1:p.Lys12=
NM_000032.5:c.895A= MANE Select NP_000023.2:p.Lys299=
NM_001037967.4:c.784A= NP_001033056.1:p.Lys262=
NM_001037968.4:c.856A= NP_001033057.1:p.Lys286=