Canonical Allele Identifier: CA1164818591

Gene: EDN2

Linked Data

• dbSNP Id: rs1373442803
• gnomAD v3: 1-41479037-G-A
• gnomAD v4: 1-41479037-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.41479037G>A , CM000663.2:g.41479037G>A	GRCh38
NC_000001.10:g.41944708G>A , CM000663.1:g.41944708G>A	GRCh37
NC_000001.9:g.41717295G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372587.5:c.*372C>T MANE Select	ENSP00000361668.4:n.*372C>T
ENST00000372587.4:c.*372C>T	ENSP00000361668.4:n.*372C>T
NM_001302269.1:c.*372C>T	NP_001289198.1:n.*372C>T
NM_001956.4:c.*372C>T	NP_001947.1:n.*372C>T
NR_126098.1:n.900C>T
XM_017000512.1:c.*372C>T	XP_016856001.1:n.*372C>T
NM_001956.5:c.*372C>T MANE Select	NP_001947.1:n.*372C>T
NM_001302269.2:c.*372C>T	NP_001289198.1:n.*372C>T
NR_126098.2:n.900C>T