Canonical Allele Identifier: CA46534651

Gene: EPAS1

Linked Data

• dbSNP Id: rs983831430
• gnomAD v3: 2-46350382-TCTTTA-T
• gnomAD v4: 2-46350382-TCTTTA-T
• MyVariant Identifiers: chr2:g.46577522_46577526del (hg19) ; chr2:g.46350383_46350387del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46350386_46350390del , CM000664.2:g.46350386_46350390del	GRCh38
NC_000002.11:g.46577525_46577529del , CM000664.1:g.46577525_46577529del	GRCh37
NC_000002.10:g.46431029_46431033del	NCBI36
NG_016000.1:g.57985_57989del

Transcript Alleles

HGVS	Amino-acid change
ENST00000263734.5:c.217+3323_217+3327del MANE Select	ENSP00000263734.3:n.217+3323_217+3327del
ENST00000263734.4:c.217+3323_217+3327del	ENSP00000263734.3:n.217+3323_217+3327del
ENST00000449347.5:c.217+3323_217+3327del	ENSP00000406137.1:n.217+3323_217+3327del
ENST00000475822.1:n.408+3323_408+3327del
NM_001430.4:c.217+3323_217+3327del	NP_001421.2:n.217+3323_217+3327del
XM_011532698.1:c.256+3323_256+3327del	XP_011531000.1:n.256+3323_256+3327del
XM_011532698.2:c.256+3323_256+3327del	XP_011531000.1:n.256+3323_256+3327del
NM_001430.5:c.217+3323_217+3327del MANE Select	NP_001421.2:n.217+3323_217+3327del