Canonical Allele Identifier: CA2495266978
Gene: EPAS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46350629C= , CM000664.2:g.46350629C= GRCh38
NC_000002.11:g.46577768C= , CM000664.1:g.46577768C= GRCh37
NC_000002.10:g.46431272C= NCBI36
NG_016000.1:g.58228C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263734.5:c.217+3566C= MANE Select ENSP00000263734.3:n.217+3566C=
ENST00000263734.4:c.217+3566C= ENSP00000263734.3:n.217+3566C=
ENST00000449347.5:c.217+3566C= ENSP00000406137.1:n.217+3566C=
ENST00000475822.1:n.408+3566C=
NM_001430.4:c.217+3566C= NP_001421.2:n.217+3566C=
XM_011532698.1:c.256+3566C= XP_011531000.1:n.256+3566C=
XM_011532698.2:c.256+3566C= XP_011531000.1:n.256+3566C=
NM_001430.5:c.217+3566C= MANE Select NP_001421.2:n.217+3566C=
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