Canonical Allele Identifier: CA835693290
Gene: EN2 HGNC NCBI

Linked Data

dbSNP Id: rs1216214970
gnomAD v3: 7-155461150-C-CG
gnomAD v4: 7-155461150-C-CG
MyVariant Identifiers: chr7:g.155253845_155253846insG (hg19) chr7:g.155461150_155461151insG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155461152dup , CM000669.2:g.155461152dup GRCh38
NC_000007.13:g.155253847dup , CM000669.1:g.155253847dup GRCh37
NC_000007.12:g.154946608dup NCBI36
NG_007124.1:g.9433dup

Transcript Alleles

HGVS Amino-acid change
ENST00000297375.4:c.686-1219dup MANE Select ENSP00000297375.4:n.686-1219dup
NM_001427.3:c.686-1219dup NP_001418.2:n.686-1219dup
NM_001427.4:c.686-1219dup MANE Select NP_001418.2:n.686-1219dup
Search 100 bp 5'
Search 100 bp 3'