Canonical Allele Identifier: CA126741
Gene: EN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 16631
ClinVar RCV Id: RCV000018110
dbSNP Id: rs1861972

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155461298G>A , CM000669.2:g.155461298G>A GRCh38
NC_000007.13:g.155253993G>A , CM000669.1:g.155253993G>A GRCh37
NC_000007.12:g.154946754G>A NCBI36
NG_007124.1:g.9579G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000297375.4:c.686-1073G>A MANE Select ENSP00000297375.4:n.686-1073G>A
NM_001427.3:c.686-1073G>A NP_001418.2:n.686-1073G>A
NM_001427.4:c.686-1073G>A MANE Select NP_001418.2:n.686-1073G>A