Canonical Allele Identifier: CA2430390026
Gene: ALAS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.55013434T= , CM000685.2:g.55013434T= GRCh38
NC_000023.10:g.55039867T= , CM000685.1:g.55039867T= GRCh37
NC_000023.9:g.55056592T= NCBI36
NG_008983.1:g.22631A=

Transcript Alleles

HGVS Amino-acid change
ENST00000650242.1:c.1600+52A= MANE Select ENSP00000497236.1:n.1600+52A=
ENST00000330807.9:c.1600+52A= ENSP00000332369.5:n.1600+52A=
ENST00000335854.8:c.1489+52A= ENSP00000337131.4:n.1489+52A=
ENST00000396198.7:c.1561+52A= ENSP00000379501.3:n.1561+52A=
ENST00000498636.1:n.728+1313A=
NM_000032.4:c.1600+52A= NP_000023.2:n.1600+52A=
NM_001037967.3:c.1489+52A= NP_001033056.1:n.1489+52A=
NM_001037968.3:c.1561+52A= NP_001033057.1:n.1561+52A=
XM_005261995.2:c.1672+52A= XP_005262052.1:n.1672+52A=
XM_011530771.1:c.739+52A= XP_011529073.1:n.739+52A=
NM_000032.5:c.1600+52A= MANE Select NP_000023.2:n.1600+52A=
NM_001037967.4:c.1489+52A= NP_001033056.1:n.1489+52A=
NM_001037968.4:c.1561+52A= NP_001033057.1:n.1561+52A=