Canonical Allele Identifier: CA522468116
Gene: EDN2 HGNC NCBI

Linked Data

dbSNP Id: rs1461248958
gnomAD v2: 1-41944695-AG-A
gnomAD v3: 1-41479024-AG-A
gnomAD v4: 1-41479024-AG-A
MyVariant Identifiers: chr1:g.41944696del (hg19) chr1:g.41479025del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.41479027del , CM000663.2:g.41479027del GRCh38
NC_000001.10:g.41944698del , CM000663.1:g.41944698del GRCh37
NC_000001.9:g.41717285del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000372587.5:c.*384del MANE Select ENSP00000361668.4:n.*384del
ENST00000372587.4:c.*384del ENSP00000361668.4:n.*384del
NM_001302269.1:c.*384del NP_001289198.1:n.*384del
NM_001956.4:c.*384del NP_001947.1:n.*384del
NR_126098.1:n.912del
XM_017000512.1:c.*384del XP_016856001.1:n.*384del
NM_001956.5:c.*384del MANE Select NP_001947.1:n.*384del
NM_001302269.2:c.*384del NP_001289198.1:n.*384del
NR_126098.2:n.912del
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