Canonical Allele Identifier: CA2495256759
Gene: EPAS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46329207C= , CM000664.2:g.46329207C= GRCh38
NC_000002.11:g.46556346C= , CM000664.1:g.46556346C= GRCh37
NC_000002.10:g.46409850C= NCBI36
NG_016000.1:g.36806C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263734.5:c.27-17666C= MANE Select ENSP00000263734.3:n.27-17666C=
ENST00000263734.4:c.27-17666C= ENSP00000263734.3:n.27-17666C=
ENST00000449347.5:c.27-17666C= ENSP00000406137.1:n.27-17666C=
ENST00000460015.1:n.433-17666C=
ENST00000467888.5:n.175-17666C=
NM_001430.4:c.27-17666C= NP_001421.2:n.27-17666C=
XM_011532698.1:c.65+3331C= XP_011531000.1:n.65+3331C=
XR_940055.1:n.2355+6577G=
XM_011532698.2:c.65+3331C= XP_011531000.1:n.65+3331C=
NM_001430.5:c.27-17666C= MANE Select NP_001421.2:n.27-17666C=
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