Canonical Allele Identifier: CA2495267016
Gene: EPAS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46350692C= , CM000664.2:g.46350692C= GRCh38
NC_000002.11:g.46577831C= , CM000664.1:g.46577831C= GRCh37
NC_000002.10:g.46431335C= NCBI36
NG_016000.1:g.58291C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263734.5:c.217+3629C= MANE Select ENSP00000263734.3:n.217+3629C=
ENST00000263734.4:c.217+3629C= ENSP00000263734.3:n.217+3629C=
ENST00000449347.5:c.217+3629C= ENSP00000406137.1:n.217+3629C=
ENST00000475822.1:n.408+3629C=
NM_001430.4:c.217+3629C= NP_001421.2:n.217+3629C=
XM_011532698.1:c.256+3629C= XP_011531000.1:n.256+3629C=
XM_011532698.2:c.256+3629C= XP_011531000.1:n.256+3629C=
NM_001430.5:c.217+3629C= MANE Select NP_001421.2:n.217+3629C=