Canonical Allele Identifier: CA835662214
Gene: EN2 HGNC NCBI

Linked Data

dbSNP Id: rs1258082875
gnomAD v3: 7-155461285-C-A
gnomAD v4: 7-155461285-C-A
MyVariant Identifiers: chr7:g.155253980C>A (hg19) chr7:g.155461285C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155461285C>A , CM000669.2:g.155461285C>A GRCh38
NC_000007.13:g.155253980C>A , CM000669.1:g.155253980C>A GRCh37
NC_000007.12:g.154946741C>A NCBI36
NG_007124.1:g.9566C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000297375.4:c.686-1086C>A MANE Select ENSP00000297375.4:n.686-1086C>A
NM_001427.3:c.686-1086C>A NP_001418.2:n.686-1086C>A
NM_001427.4:c.686-1086C>A MANE Select NP_001418.2:n.686-1086C>A
Search 100 bp 5'
Search 100 bp 3'