Canonical Allele Identifier: CA1645323
Gene: EPAS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 336275
ClinVar RCV Id: RCV000318592 RCV001711951 RCV003912416
dbSNP Id: rs61518065
ExAC: 2:46609629 C / A
gnomAD v2: 2-46609629-C-A
gnomAD v3: 2-46382490-C-A
gnomAD v4: 2-46382490-C-A
MyVariant Identifiers: chr2:g.46609629C>A (hg19) chr2:g.46382490C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46382490C>A , CM000664.2:g.46382490C>A GRCh38
NC_000002.11:g.46609629C>A , CM000664.1:g.46609629C>A GRCh37
NC_000002.10:g.46463133C>A NCBI36
NG_016000.1:g.90089C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000263734.5:c.2353C>A MANE Select ENSP00000263734.3:p.Pro785Thr
ENST00000263734.4:c.2353C>A ENSP00000263734.3:p.Pro785Thr
ENST00000465318.5:n.727C>A
ENST00000466465.5:n.1326C>A
ENST00000468530.1:n.269C>A
NM_001430.4:c.2353C>A NP_001421.2:p.Pro785Thr
XM_011532698.1:c.2392C>A XP_011531000.1:p.Pro798Thr
XM_011532698.2:c.2392C>A XP_011531000.1:p.Pro798Thr
NM_001430.5:c.2353C>A MANE Select NP_001421.2:p.Pro785Thr
Search 100 bp 5'
Search 100 bp 3'