Canonical Allele Identifier: CA769367789

Gene: EPAS1

Linked Data

• dbSNP Id: rs1159681778
• gnomAD v3: 2-46350494-GATT-G
• gnomAD v4: 2-46350494-GATT-G
• MyVariant Identifiers: chr2:g.46577634_46577636del (hg19) ; chr2:g.46350495_46350497del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46350495_46350497del , CM000664.2:g.46350495_46350497del	GRCh38
NC_000002.11:g.46577634_46577636del , CM000664.1:g.46577634_46577636del	GRCh37
NC_000002.10:g.46431138_46431140del	NCBI36
NG_016000.1:g.58094_58096del

Transcript Alleles

HGVS	Amino-acid change
ENST00000263734.5:c.217+3432_217+3434del MANE Select	ENSP00000263734.3:n.217+3432_217+3434del
ENST00000263734.4:c.217+3432_217+3434del	ENSP00000263734.3:n.217+3432_217+3434del
ENST00000449347.5:c.217+3432_217+3434del	ENSP00000406137.1:n.217+3432_217+3434del
ENST00000475822.1:n.408+3432_408+3434del
NM_001430.4:c.217+3432_217+3434del	NP_001421.2:n.217+3432_217+3434del
XM_011532698.1:c.256+3432_256+3434del	XP_011531000.1:n.256+3432_256+3434del
XM_011532698.2:c.256+3432_256+3434del	XP_011531000.1:n.256+3432_256+3434del
NM_001430.5:c.217+3432_217+3434del MANE Select	NP_001421.2:n.217+3432_217+3434del