Canonical Allele Identifier: CA126741
Gene: EN2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.155461298G>A
GRCh37 chr7:g.155253993G>A
gnomAD v2:
7:155253993 G / A
gnomAD v3:
7:155461298 G / A
gnomAD v4:
chr7-155461298-G-A
Joint Max Group AF 0.91704037 (EAS)
Genomes Max Group AF 0.91704037 (EAS)
ClinVar RCV:
RCV000018110
ClinVar Variation:
16631
dbSNP:
1861972
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'