Canonical Allele Identifier: CA1645328

Gene: EPAS1

Linked Data

• ClinVar Variation Id: 336277
• ClinVar RCV Id: RCV002446596 ; RCV003727698
• dbSNP Id: rs755579146
• ExAC: 2:46609643 C / T
• gnomAD v2: 2-46609643-C-T
• gnomAD v3: 2-46382504-C-T
• gnomAD v4: 2-46382504-C-T
• COSMIC: COSM3799031
• MyVariant Identifiers: chr2:g.46609643C>T (hg19) ; chr2:g.46382504C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46382504C>T , CM000664.2:g.46382504C>T	GRCh38
NC_000002.11:g.46609643C>T , CM000664.1:g.46609643C>T	GRCh37
NC_000002.10:g.46463147C>T	NCBI36
NG_016000.1:g.90103C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263734.5:c.2367C>T MANE Select	ENSP00000263734.3:p.Ile789=
ENST00000263734.4:c.2367C>T	ENSP00000263734.3:p.Ile789=
ENST00000465318.5:n.741C>T
ENST00000466465.5:n.1340C>T
ENST00000468530.1:n.283C>T
NM_001430.4:c.2367C>T	NP_001421.2:p.Ile789=
XM_011532698.1:c.2406C>T	XP_011531000.1:p.Ile802=
XM_011532698.2:c.2406C>T	XP_011531000.1:p.Ile802=
NM_001430.5:c.2367C>T MANE Select	NP_001421.2:p.Ile789=