Canonical Allele Identifier: CA769340731
Gene: EPAS1 HGNC NCBI

Linked Data

dbSNP Id: rs1249713749
gnomAD v3: 2-46306288-C-A
gnomAD v4: 2-46306288-C-A
MyVariant Identifiers: chr2:g.46533427C>A (hg19) chr2:g.46306288C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46306288C>A , CM000664.2:g.46306288C>A GRCh38
NC_000002.11:g.46533427C>A , CM000664.1:g.46533427C>A GRCh37
NC_000002.10:g.46386931C>A NCBI36
NG_016000.1:g.13887C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263734.5:c.26+8351C>A MANE Select ENSP00000263734.3:n.26+8351C>A
ENST00000263734.4:c.26+8351C>A ENSP00000263734.3:n.26+8351C>A
ENST00000449347.5:c.26+8351C>A ENSP00000406137.1:n.26+8351C>A
ENST00000460015.1:n.432+12190C>A
ENST00000467888.5:n.174+8351C>A
NM_001430.4:c.26+8351C>A NP_001421.2:n.26+8351C>A
XR_940055.1:n.2501+7805G>T
NM_001430.5:c.26+8351C>A MANE Select NP_001421.2:n.26+8351C>A
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