Canonical Allele Identifier: CA10615365
Gene: EPAS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 336307
ClinVar RCV Id: RCV000338095
dbSNP Id: rs116816939
gnomAD v2: 2-46613006-A-C
gnomAD v3: 2-46385867-A-C
gnomAD v4: 2-46385867-A-C
MyVariant Identifiers: chr2:g.46613006A>C (hg19) chr2:g.46385867A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46385867A>C , CM000664.2:g.46385867A>C GRCh38
NC_000002.11:g.46613006A>C , CM000664.1:g.46613006A>C GRCh37
NC_000002.10:g.46466510A>C NCBI36
NG_016000.1:g.93466A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000263734.5:c.*1207A>C MANE Select ENSP00000263734.3:n.*1207A>C
ENST00000263734.4:c.*1207A>C ENSP00000263734.3:n.*1207A>C
ENST00000466465.5:n.2793A>C
NM_001430.4:c.*1207A>C NP_001421.2:n.*1207A>C
XM_011532698.1:c.*1207A>C XP_011531000.1:n.*1207A>C
XM_011532698.2:c.*1207A>C XP_011531000.1:n.*1207A>C
NM_001430.5:c.*1207A>C MANE Select NP_001421.2:n.*1207A>C
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