Canonical Allele Identifier: CA2580583587
Gene: EDN2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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