Canonical Allele Identifier: CA769340714

Gene: EPAS1

Linked Data

• dbSNP Id: rs1192326210
• gnomAD v3: 2-46306248-C-T
• gnomAD v4: 2-46306248-C-T
• MyVariant Identifiers: chr2:g.46533387C>T (hg19) ; chr2:g.46306248C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46306248C>T , CM000664.2:g.46306248C>T	GRCh38
NC_000002.11:g.46533387C>T , CM000664.1:g.46533387C>T	GRCh37
NC_000002.10:g.46386891C>T	NCBI36
NG_016000.1:g.13847C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263734.5:c.26+8311C>T MANE Select	ENSP00000263734.3:n.26+8311C>T
ENST00000263734.4:c.26+8311C>T	ENSP00000263734.3:n.26+8311C>T
ENST00000449347.5:c.26+8311C>T	ENSP00000406137.1:n.26+8311C>T
ENST00000460015.1:n.432+12150C>T
ENST00000467888.5:n.174+8311C>T
NM_001430.4:c.26+8311C>T	NP_001421.2:n.26+8311C>T
XR_940055.1:n.2501+7845G>A
NM_001430.5:c.26+8311C>T MANE Select	NP_001421.2:n.26+8311C>T