Canonical Allele Identifier: CA46547638

Gene: EPAS1

Linked Data

• dbSNP Id: rs982908256
• MyVariant Identifiers: chr2:g.46533422C>G (hg19) ; chr2:g.46306283C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46306283C>G , CM000664.2:g.46306283C>G	GRCh38
NC_000002.11:g.46533422C>G , CM000664.1:g.46533422C>G	GRCh37
NC_000002.10:g.46386926C>G	NCBI36
NG_016000.1:g.13882C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000263734.5:c.26+8346C>G MANE Select	ENSP00000263734.3:n.26+8346C>G
ENST00000263734.4:c.26+8346C>G	ENSP00000263734.3:n.26+8346C>G
ENST00000449347.5:c.26+8346C>G	ENSP00000406137.1:n.26+8346C>G
ENST00000460015.1:n.432+12185C>G
ENST00000467888.5:n.174+8346C>G
NM_001430.4:c.26+8346C>G	NP_001421.2:n.26+8346C>G
XR_940055.1:n.2501+7810G>C
NM_001430.5:c.26+8346C>G MANE Select	NP_001421.2:n.26+8346C>G