Canonical Allele Identifier: CA2597262791
Gene: EPAS1 HGNC NCBI

Linked Data

gnomAD v3: 2-46306273-T-A
gnomAD v4: 2-46306273-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46306273T>A , CM000664.2:g.46306273T>A GRCh38
NC_000002.11:g.46533412T>A , CM000664.1:g.46533412T>A GRCh37
NC_000002.10:g.46386916T>A NCBI36
NG_016000.1:g.13872T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263734.5:c.26+8336T>A MANE Select ENSP00000263734.3:n.26+8336T>A
ENST00000263734.4:c.26+8336T>A ENSP00000263734.3:n.26+8336T>A
ENST00000449347.5:c.26+8336T>A ENSP00000406137.1:n.26+8336T>A
ENST00000460015.1:n.432+12175T>A
ENST00000467888.5:n.174+8336T>A
NM_001430.4:c.26+8336T>A NP_001421.2:n.26+8336T>A
XR_940055.1:n.2501+7820A>T
NM_001430.5:c.26+8336T>A MANE Select NP_001421.2:n.26+8336T>A
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