Canonical Allele Identifier: CA532302640

Gene: EPAS1

Linked Data

• dbSNP Id: rs1267907368
• gnomAD v2: 2-46577793-C-T
• gnomAD v3: 2-46350654-C-T
• gnomAD v4: 2-46350654-C-T
• MyVariant Identifiers: chr2:g.46577793C>T (hg19) ; chr2:g.46350654C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46350654C>T , CM000664.2:g.46350654C>T	GRCh38
NC_000002.11:g.46577793C>T , CM000664.1:g.46577793C>T	GRCh37
NC_000002.10:g.46431297C>T	NCBI36
NG_016000.1:g.58253C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.217+3591C>T MANE Select	ENSP00000263734.3:n.217+3591C>T
ENST00000263734.4:c.217+3591C>T	ENSP00000263734.3:n.217+3591C>T
ENST00000449347.5:c.217+3591C>T	ENSP00000406137.1:n.217+3591C>T
ENST00000475822.1:n.408+3591C>T
NM_001430.4:c.217+3591C>T	NP_001421.2:n.217+3591C>T
XM_011532698.1:c.256+3591C>T	XP_011531000.1:n.256+3591C>T
XM_011532698.2:c.256+3591C>T	XP_011531000.1:n.256+3591C>T
NM_001430.5:c.217+3591C>T MANE Select	NP_001421.2:n.217+3591C>T