Canonical Allele Identifier: CA10615356
Gene: EPAS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 336283
ClinVar RCV Id: RCV000290710
dbSNP Id: rs142847751
gnomAD v2: 2-46611853-C-T
gnomAD v3: 2-46384714-C-T
gnomAD v4: 2-46384714-C-T
MyVariant Identifiers: chr2:g.46611853C>T (hg19) chr2:g.46384714C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46384714C>T , CM000664.2:g.46384714C>T GRCh38
NC_000002.11:g.46611853C>T , CM000664.1:g.46611853C>T GRCh37
NC_000002.10:g.46465357C>T NCBI36
NG_016000.1:g.92313C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000263734.5:c.*54C>T MANE Select ENSP00000263734.3:n.*54C>T
ENST00000263734.4:c.*54C>T ENSP00000263734.3:n.*54C>T
ENST00000466465.5:n.1640C>T
NM_001430.4:c.*54C>T NP_001421.2:n.*54C>T
XM_011532698.1:c.*54C>T XP_011531000.1:n.*54C>T
XM_011532698.2:c.*54C>T XP_011531000.1:n.*54C>T
NM_001430.5:c.*54C>T MANE Select NP_001421.2:n.*54C>T
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