Canonical Allele Identifier: CA46534881

Gene: EPAS1

Linked Data

• dbSNP Id: rs555698019
• gnomAD v2: 2-46577808-T-A
• gnomAD v3: 2-46350669-T-A
• gnomAD v4: 2-46350669-T-A
• MyVariant Identifiers: chr2:g.46577808T>A (hg19) ; chr2:g.46350669T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46350669T>A , CM000664.2:g.46350669T>A	GRCh38
NC_000002.11:g.46577808T>A , CM000664.1:g.46577808T>A	GRCh37
NC_000002.10:g.46431312T>A	NCBI36
NG_016000.1:g.58268T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.217+3606T>A MANE Select	ENSP00000263734.3:n.217+3606T>A
ENST00000263734.4:c.217+3606T>A	ENSP00000263734.3:n.217+3606T>A
ENST00000449347.5:c.217+3606T>A	ENSP00000406137.1:n.217+3606T>A
ENST00000475822.1:n.408+3606T>A
NM_001430.4:c.217+3606T>A	NP_001421.2:n.217+3606T>A
XM_011532698.1:c.256+3606T>A	XP_011531000.1:n.256+3606T>A
XM_011532698.2:c.256+3606T>A	XP_011531000.1:n.256+3606T>A
NM_001430.5:c.217+3606T>A MANE Select	NP_001421.2:n.217+3606T>A