Canonical Allele Identifier: CA2742062429
Gene: EDN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.41479034G>A , CM000663.2:g.41479034G>A GRCh38
NC_000001.10:g.41944705G>A , CM000663.1:g.41944705G>A GRCh37
NC_000001.9:g.41717292G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000372587.5:c.*375C>T MANE Select ENSP00000361668.4:n.*375C>T
ENST00000372587.4:c.*375C>T ENSP00000361668.4:n.*375C>T
NM_001302269.1:c.*375C>T NP_001289198.1:n.*375C>T
NM_001956.4:c.*375C>T NP_001947.1:n.*375C>T
NR_126098.1:n.903C>T
XM_017000512.1:c.*375C>T XP_016856001.1:n.*375C>T
NM_001956.5:c.*375C>T MANE Select NP_001947.1:n.*375C>T
NM_001302269.2:c.*375C>T NP_001289198.1:n.*375C>T
NR_126098.2:n.903C>T