Canonical Allele Identifier: CA2495245842
Gene: EPAS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46306159G= , CM000664.2:g.46306159G= GRCh38
NC_000002.11:g.46533298G= , CM000664.1:g.46533298G= GRCh37
NC_000002.10:g.46386802G= NCBI36
NG_016000.1:g.13758G=

Transcript Alleles

HGVS Amino-acid change
ENST00000263734.5:c.26+8222G= MANE Select ENSP00000263734.3:n.26+8222G=
ENST00000263734.4:c.26+8222G= ENSP00000263734.3:n.26+8222G=
ENST00000449347.5:c.26+8222G= ENSP00000406137.1:n.26+8222G=
ENST00000460015.1:n.432+12061G=
ENST00000467888.5:n.174+8222G=
NM_001430.4:c.26+8222G= NP_001421.2:n.26+8222G=
XR_940055.1:n.2501+7934C=
NM_001430.5:c.26+8222G= MANE Select NP_001421.2:n.26+8222G=
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