Canonical Allele Identifier: CA2495285176
Gene: EPAS1 HGNC NCBI

Linked Data

dbSNP Id: rs1684998813
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46385518G>A , CM000664.2:g.46385518G>A GRCh38
NC_000002.11:g.46612657G>A , CM000664.1:g.46612657G>A GRCh37
NC_000002.10:g.46466161G>A NCBI36
NG_016000.1:g.93117G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263734.5:c.*858G>A MANE Select ENSP00000263734.3:n.*858G>A
ENST00000263734.4:c.*858G>A ENSP00000263734.3:n.*858G>A
ENST00000466465.5:n.2444G>A
NM_001430.4:c.*858G>A NP_001421.2:n.*858G>A
XM_011532698.1:c.*858G>A XP_011531000.1:n.*858G>A
XM_011532698.2:c.*858G>A XP_011531000.1:n.*858G>A
NM_001430.5:c.*858G>A MANE Select NP_001421.2:n.*858G>A
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