Canonical Allele Identifier: CA1644891

Gene: EPAS1

Linked Data

• ClinVar Variation Id: 336261
• ClinVar RCV Id: RCV000879788 ; RCV000986629
• dbSNP Id: rs150797491
• ExAC: 2:46603764 T / A
• gnomAD v2: 2-46603764-T-A
• gnomAD v3: 2-46376625-T-A
• gnomAD v4: 2-46376625-T-A
• COSMIC: COSM6196865
• MyVariant Identifiers: chr2:g.46603764T>A (hg19) ; chr2:g.46376625T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46376625T>A , CM000664.2:g.46376625T>A	GRCh38
NC_000002.11:g.46603764T>A , CM000664.1:g.46603764T>A	GRCh37
NC_000002.10:g.46457268T>A	NCBI36
NG_016000.1:g.84224T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.1121T>A MANE Select	ENSP00000263734.3:p.Phe374Tyr
ENST00000263734.4:c.1121T>A	ENSP00000263734.3:p.Phe374Tyr
ENST00000483692.1:n.289T>A
NM_001430.4:c.1121T>A	NP_001421.2:p.Phe374Tyr
XM_011532698.1:c.1160T>A	XP_011531000.1:p.Phe387Tyr
XM_011532698.2:c.1160T>A	XP_011531000.1:p.Phe387Tyr
NM_001430.5:c.1121T>A MANE Select	NP_001421.2:p.Phe374Tyr