Canonical Allele Identifier: CA769367626

Gene: EPAS1

Linked Data

• dbSNP Id: rs1021564465
• gnomAD v3: 2-46350223-A-C
• gnomAD v4: 2-46350223-A-C
• MyVariant Identifiers: chr2:g.46577362A>C (hg19) ; chr2:g.46350223A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46350223A>C , CM000664.2:g.46350223A>C	GRCh38
NC_000002.11:g.46577362A>C , CM000664.1:g.46577362A>C	GRCh37
NC_000002.10:g.46430866A>C	NCBI36
NG_016000.1:g.57822A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263734.5:c.217+3160A>C MANE Select	ENSP00000263734.3:n.217+3160A>C
ENST00000263734.4:c.217+3160A>C	ENSP00000263734.3:n.217+3160A>C
ENST00000449347.5:c.217+3160A>C	ENSP00000406137.1:n.217+3160A>C
ENST00000475822.1:n.408+3160A>C
NM_001430.4:c.217+3160A>C	NP_001421.2:n.217+3160A>C
XM_011532698.1:c.256+3160A>C	XP_011531000.1:n.256+3160A>C
XM_011532698.2:c.256+3160A>C	XP_011531000.1:n.256+3160A>C
NM_001430.5:c.217+3160A>C MANE Select	NP_001421.2:n.217+3160A>C