Canonical Allele Identifier: CA2430390701
Gene: ALAS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.55015569T= , CM000685.2:g.55015569T= GRCh38
NC_000023.10:g.55042002T= , CM000685.1:g.55042002T= GRCh37
NC_000023.9:g.55058727T= NCBI36
NG_008983.1:g.20496A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000650242.1:c.1168+9A= MANE Select ENSP00000497236.1:n.1168+9A=
ENST00000330807.9:c.1168+9A= ENSP00000332369.5:n.1168+9A=
ENST00000335854.8:c.1057+9A= ENSP00000337131.4:n.1057+9A=
ENST00000396198.7:c.1129+9A= ENSP00000379501.3:n.1129+9A=
ENST00000498636.1:n.459+9A=
NM_000032.4:c.1168+9A= NP_000023.2:n.1168+9A=
NM_001037967.3:c.1057+9A= NP_001033056.1:n.1057+9A=
NM_001037968.3:c.1129+9A= NP_001033057.1:n.1129+9A=
XM_005261995.2:c.1240+9A= XP_005262052.1:n.1240+9A=
XM_011530771.1:c.307+9A= XP_011529073.1:n.307+9A=
NM_000032.5:c.1168+9A= MANE Select NP_000023.2:n.1168+9A=
NM_001037967.4:c.1057+9A= NP_001033056.1:n.1057+9A=
NM_001037968.4:c.1129+9A= NP_001033057.1:n.1129+9A=