Canonical Allele Identifier: CA10613514
Gene: EPAS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 336321
ClinVar RCV Id: RCV000331477
dbSNP Id: rs532892029
gnomAD v2: 2-46613589-G-A
gnomAD v3: 2-46386450-G-A
gnomAD v4: 2-46386450-G-A
MyVariant Identifiers: chr2:g.46613589G>A (hg19) chr2:g.46386450G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46386450G>A , CM000664.2:g.46386450G>A GRCh38
NC_000002.11:g.46613589G>A , CM000664.1:g.46613589G>A GRCh37
NC_000002.10:g.46467093G>A NCBI36
NG_016000.1:g.94049G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000263734.5:c.*1790G>A MANE Select ENSP00000263734.3:n.*1790G>A
ENST00000263734.4:c.*1790G>A ENSP00000263734.3:n.*1790G>A
ENST00000466465.5:n.3376G>A
NM_001430.4:c.*1790G>A NP_001421.2:n.*1790G>A
XM_011532698.1:c.*1790G>A XP_011531000.1:n.*1790G>A
XM_011532698.2:c.*1790G>A XP_011531000.1:n.*1790G>A
NM_001430.5:c.*1790G>A MANE Select NP_001421.2:n.*1790G>A
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