Canonical Allele Identifier: CA2495245858
Gene: EPAS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46306207A= , CM000664.2:g.46306207A= GRCh38
NC_000002.11:g.46533346A= , CM000664.1:g.46533346A= GRCh37
NC_000002.10:g.46386850A= NCBI36
NG_016000.1:g.13806A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263734.5:c.26+8270A= MANE Select ENSP00000263734.3:n.26+8270A=
ENST00000263734.4:c.26+8270A= ENSP00000263734.3:n.26+8270A=
ENST00000449347.5:c.26+8270A= ENSP00000406137.1:n.26+8270A=
ENST00000460015.1:n.432+12109A=
ENST00000467888.5:n.174+8270A=
NM_001430.4:c.26+8270A= NP_001421.2:n.26+8270A=
XR_940055.1:n.2501+7886T=
NM_001430.5:c.26+8270A= MANE Select NP_001421.2:n.26+8270A=
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