Canonical Allele Identifier: CA46518687

Gene: EPAS1

Linked Data

• dbSNP Id: rs903433202
• gnomAD v3: 2-46329161-C-A
• gnomAD v4: 2-46329161-C-A
• MyVariant Identifiers: chr2:g.46556300C>A (hg19) ; chr2:g.46329161C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46329161C>A , CM000664.2:g.46329161C>A	GRCh38
NC_000002.11:g.46556300C>A , CM000664.1:g.46556300C>A	GRCh37
NC_000002.10:g.46409804C>A	NCBI36
NG_016000.1:g.36760C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.27-17712C>A MANE Select	ENSP00000263734.3:n.27-17712C>A
ENST00000263734.4:c.27-17712C>A	ENSP00000263734.3:n.27-17712C>A
ENST00000449347.5:c.27-17712C>A	ENSP00000406137.1:n.27-17712C>A
ENST00000460015.1:n.433-17712C>A
ENST00000467888.5:n.175-17712C>A
NM_001430.4:c.27-17712C>A	NP_001421.2:n.27-17712C>A
XM_011532698.1:c.65+3285C>A	XP_011531000.1:n.65+3285C>A
XR_940055.1:n.2355+6623G>T
XM_011532698.2:c.65+3285C>A	XP_011531000.1:n.65+3285C>A
NM_001430.5:c.27-17712C>A MANE Select	NP_001421.2:n.27-17712C>A