Canonical Allele Identifier: CA769367832

Gene: EPAS1

Linked Data

• dbSNP Id: rs1365554806
• gnomAD v3: 2-46350571-AAC-A
• gnomAD v4: 2-46350571-AAC-A
• MyVariant Identifiers: chr2:g.46577711_46577712del (hg19) ; chr2:g.46350572_46350573del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46350576_46350577del , CM000664.2:g.46350576_46350577del	GRCh38
NC_000002.11:g.46577715_46577716del , CM000664.1:g.46577715_46577716del	GRCh37
NC_000002.10:g.46431219_46431220del	NCBI36
NG_016000.1:g.58175_58176del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.217+3513_217+3514del MANE Select	ENSP00000263734.3:n.217+3513_217+3514del
ENST00000263734.4:c.217+3513_217+3514del	ENSP00000263734.3:n.217+3513_217+3514del
ENST00000449347.5:c.217+3513_217+3514del	ENSP00000406137.1:n.217+3513_217+3514del
ENST00000475822.1:n.408+3513_408+3514del
NM_001430.4:c.217+3513_217+3514del	NP_001421.2:n.217+3513_217+3514del
XM_011532698.1:c.256+3513_256+3514del	XP_011531000.1:n.256+3513_256+3514del
XM_011532698.2:c.256+3513_256+3514del	XP_011531000.1:n.256+3513_256+3514del
NM_001430.5:c.217+3513_217+3514del MANE Select	NP_001421.2:n.217+3513_217+3514del