Canonical Allele Identifier: CA769354195

Gene: EPAS1

Linked Data

• dbSNP Id: rs1250559453
• MyVariant Identifiers: chr2:g.46556343_46556344del (hg19) ; chr2:g.46329204_46329205del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46329206_46329207del , CM000664.2:g.46329206_46329207del	GRCh38
NC_000002.11:g.46556345_46556346del , CM000664.1:g.46556345_46556346del	GRCh37
NC_000002.10:g.46409849_46409850del	NCBI36
NG_016000.1:g.36805_36806del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.27-17667_27-17666del MANE Select	ENSP00000263734.3:n.27-17667_27-17666del
ENST00000263734.4:c.27-17667_27-17666del	ENSP00000263734.3:n.27-17667_27-17666del
ENST00000449347.5:c.27-17667_27-17666del	ENSP00000406137.1:n.27-17667_27-17666del
ENST00000460015.1:n.433-17667_433-17666del
ENST00000467888.5:n.175-17667_175-17666del
NM_001430.4:c.27-17667_27-17666del	NP_001421.2:n.27-17667_27-17666del
XM_011532698.1:c.65+3330_65+3331del	XP_011531000.1:n.65+3330_65+3331del
XR_940055.1:n.2355+6579_2355+6580del
XM_011532698.2:c.65+3330_65+3331del	XP_011531000.1:n.65+3330_65+3331del
NM_001430.5:c.27-17667_27-17666del MANE Select	NP_001421.2:n.27-17667_27-17666del