Canonical Allele Identifier: CA169342160
Gene: EN2 HGNC NCBI

Linked Data

dbSNP Id: rs532304607
gnomAD v2: 7-155255923-G-A
gnomAD v3: 7-155463228-G-A
gnomAD v4: 7-155463228-G-A
MyVariant Identifiers: chr7:g.155255923G>A (hg19) chr7:g.155463228G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155463228G>A , CM000669.2:g.155463228G>A GRCh38
NC_000007.13:g.155255923G>A , CM000669.1:g.155255923G>A GRCh37
NC_000007.12:g.154948684G>A NCBI36
NG_007124.1:g.11509G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297375.4:c.*541G>A MANE Select ENSP00000297375.4:n.*541G>A
NM_001427.3:c.*541G>A NP_001418.2:n.*541G>A
NM_001427.4:c.*541G>A MANE Select NP_001418.2:n.*541G>A
Search 100 bp 5'
Search 100 bp 3'