Canonical Allele Identifier: CA46519825

Gene: EPAS1

Linked Data

• dbSNP Id: rs184777102
• gnomAD v2: 2-46557604-C-T
• gnomAD v3: 2-46330465-C-T
• gnomAD v4: 2-46330465-C-T
• MyVariant Identifiers: chr2:g.46557604C>T (hg19) ; chr2:g.46330465C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46330465C>T , CM000664.2:g.46330465C>T	GRCh38
NC_000002.11:g.46557604C>T , CM000664.1:g.46557604C>T	GRCh37
NC_000002.10:g.46411108C>T	NCBI36
NG_016000.1:g.38064C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.27-16408C>T MANE Select	ENSP00000263734.3:n.27-16408C>T
ENST00000263734.4:c.27-16408C>T	ENSP00000263734.3:n.27-16408C>T
ENST00000449347.5:c.27-16408C>T	ENSP00000406137.1:n.27-16408C>T
ENST00000460015.1:n.433-16408C>T
ENST00000467888.5:n.175-16408C>T
NM_001430.4:c.27-16408C>T	NP_001421.2:n.27-16408C>T
XM_011532698.1:c.65+4589C>T	XP_011531000.1:n.65+4589C>T
XR_940055.1:n.2355+5319G>A
XM_011532698.2:c.65+4589C>T	XP_011531000.1:n.65+4589C>T
NM_001430.5:c.27-16408C>T MANE Select	NP_001421.2:n.27-16408C>T