Canonical Allele Identifier: CA46534869
Gene: EPAS1 HGNC NCBI

Linked Data

dbSNP Id: rs745527615
MyVariant Identifiers: chr2:g.46577800_46577804del (hg19) chr2:g.46350661_46350665del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46350661_46350665del , CM000664.2:g.46350661_46350665del GRCh38
NC_000002.11:g.46577800_46577804del , CM000664.1:g.46577800_46577804del GRCh37
NC_000002.10:g.46431304_46431308del NCBI36
NG_016000.1:g.58260_58264del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263734.5:c.217+3598_217+3602del MANE Select ENSP00000263734.3:n.217+3598_217+3602del
ENST00000263734.4:c.217+3598_217+3602del ENSP00000263734.3:n.217+3598_217+3602del
ENST00000449347.5:c.217+3598_217+3602del ENSP00000406137.1:n.217+3598_217+3602del
ENST00000475822.1:n.408+3598_408+3602del
NM_001430.4:c.217+3598_217+3602del NP_001421.2:n.217+3598_217+3602del
XM_011532698.1:c.256+3598_256+3602del XP_011531000.1:n.256+3598_256+3602del
XM_011532698.2:c.256+3598_256+3602del XP_011531000.1:n.256+3598_256+3602del
NM_001430.5:c.217+3598_217+3602del MANE Select NP_001421.2:n.217+3598_217+3602del
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