Canonical Allele Identifier: CA10723096

Gene: EDN2

Linked Data

• dbSNP Id: rs5800
• gnomAD v2: 1-41944690-C-T
• gnomAD v3: 1-41479019-C-T
• gnomAD v4: 1-41479019-C-T
• MyVariant Identifiers: chr1:g.41944690C>T (hg19) ; chr1:g.41479019C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.41479019C>T , CM000663.2:g.41479019C>T	GRCh38
NC_000001.10:g.41944690C>T , CM000663.1:g.41944690C>T	GRCh37
NC_000001.9:g.41717277C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000372587.5:c.*390G>A MANE Select	ENSP00000361668.4:n.*390G>A
ENST00000372587.4:c.*390G>A	ENSP00000361668.4:n.*390G>A
NM_001302269.1:c.*390G>A	NP_001289198.1:n.*390G>A
NM_001956.4:c.*390G>A	NP_001947.1:n.*390G>A
NR_126098.1:n.918G>A
XM_017000512.1:c.*390G>A	XP_016856001.1:n.*390G>A
NM_001956.5:c.*390G>A MANE Select	NP_001947.1:n.*390G>A
NM_001302269.2:c.*390G>A	NP_001289198.1:n.*390G>A
NR_126098.2:n.918G>A