Canonical Allele Identifier: CA769354113

Gene: EPAS1

Linked Data

• dbSNP Id: rs144105749
• gnomAD v3: 2-46329016-C-T
• gnomAD v4: 2-46329016-C-T
• MyVariant Identifiers: chr2:g.46556155C>T (hg19) ; chr2:g.46329016C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46329016C>T , CM000664.2:g.46329016C>T	GRCh38
NC_000002.11:g.46556155C>T , CM000664.1:g.46556155C>T	GRCh37
NC_000002.10:g.46409659C>T	NCBI36
NG_016000.1:g.36615C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.27-17857C>T MANE Select	ENSP00000263734.3:n.27-17857C>T
ENST00000263734.4:c.27-17857C>T	ENSP00000263734.3:n.27-17857C>T
ENST00000449347.5:c.27-17857C>T	ENSP00000406137.1:n.27-17857C>T
ENST00000460015.1:n.433-17857C>T
ENST00000467888.5:n.175-17857C>T
NM_001430.4:c.27-17857C>T	NP_001421.2:n.27-17857C>T
XM_011532698.1:c.65+3140C>T	XP_011531000.1:n.65+3140C>T
XR_940055.1:n.2355+6768G>A
XM_011532698.2:c.65+3140C>T	XP_011531000.1:n.65+3140C>T
NM_001430.5:c.27-17857C>T MANE Select	NP_001421.2:n.27-17857C>T