Canonical Allele Identifier: CA2685784303
Gene: EN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155463227T>C , CM000669.2:g.155463227T>C GRCh38
NC_000007.13:g.155255922T>C , CM000669.1:g.155255922T>C GRCh37
NC_000007.12:g.154948683T>C NCBI36
NG_007124.1:g.11508T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297375.4:c.*540T>C MANE Select ENSP00000297375.4:n.*540T>C
NM_001427.3:c.*540T>C NP_001418.2:n.*540T>C
NM_001427.4:c.*540T>C MANE Select NP_001418.2:n.*540T>C