Canonical Allele Identifier: CA46547581

Gene: EPAS1

Linked Data

• dbSNP Id: rs1010017835
• gnomAD v3: 2-46306159-G-A
• gnomAD v4: 2-46306159-G-A
• MyVariant Identifiers: chr2:g.46533298G>A (hg19) ; chr2:g.46306159G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46306159G>A , CM000664.2:g.46306159G>A	GRCh38
NC_000002.11:g.46533298G>A , CM000664.1:g.46533298G>A	GRCh37
NC_000002.10:g.46386802G>A	NCBI36
NG_016000.1:g.13758G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.26+8222G>A MANE Select	ENSP00000263734.3:n.26+8222G>A
ENST00000263734.4:c.26+8222G>A	ENSP00000263734.3:n.26+8222G>A
ENST00000449347.5:c.26+8222G>A	ENSP00000406137.1:n.26+8222G>A
ENST00000460015.1:n.432+12061G>A
ENST00000467888.5:n.174+8222G>A
NM_001430.4:c.26+8222G>A	NP_001421.2:n.26+8222G>A
XR_940055.1:n.2501+7934C>T
NM_001430.5:c.26+8222G>A MANE Select	NP_001421.2:n.26+8222G>A