Canonical Allele Identifier: CA1109065253
Gene: EN2 HGNC NCBI

Linked Data

dbSNP Id: rs1748417989
gnomAD v3: 7-155461293-T-G
gnomAD v4: 7-155461293-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155461293T>G , CM000669.2:g.155461293T>G GRCh38
NC_000007.13:g.155253988T>G , CM000669.1:g.155253988T>G GRCh37
NC_000007.12:g.154946749T>G NCBI36
NG_007124.1:g.9574T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000297375.4:c.686-1078T>G MANE Select ENSP00000297375.4:n.686-1078T>G
NM_001427.3:c.686-1078T>G NP_001418.2:n.686-1078T>G
NM_001427.4:c.686-1078T>G MANE Select NP_001418.2:n.686-1078T>G
Search 100 bp 5'
Search 100 bp 3'