Canonical Allele Identifier: CA532302643
Gene: EPAS1 HGNC NCBI

Linked Data

dbSNP Id: rs79139471
gnomAD v2: 2-46577806-A-C
MyVariant Identifiers: chr2:g.46577806_46577807delinsCC (hg19) chr2:g.46350667_46350668delinsCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46350667A>C , CM000664.2:g.46350667A>C GRCh38
NC_000002.11:g.46577806A>C , CM000664.1:g.46577806A>C GRCh37
NC_000002.10:g.46431310A>C NCBI36
NG_016000.1:g.58266A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000263734.5:c.217+3604A>C MANE Select ENSP00000263734.3:n.217+3604A>C
ENST00000263734.4:c.217+3604A>C ENSP00000263734.3:n.217+3604A>C
ENST00000449347.5:c.217+3604A>C ENSP00000406137.1:n.217+3604A>C
ENST00000475822.1:n.408+3604A>C
NM_001430.4:c.217+3604A>C NP_001421.2:n.217+3604A>C
XM_011532698.1:c.256+3604A>C XP_011531000.1:n.256+3604A>C
XM_011532698.2:c.256+3604A>C XP_011531000.1:n.256+3604A>C
NM_001430.5:c.217+3604A>C MANE Select NP_001421.2:n.217+3604A>C
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