Canonical Allele Identifier: CA835693271
Gene: EN2 HGNC NCBI

Linked Data

dbSNP Id: rs1246137160
gnomAD v3: 7-155461126-C-T
gnomAD v4: 7-155461126-C-T
MyVariant Identifiers: chr7:g.155253821C>T (hg19) chr7:g.155461126C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155461126C>T , CM000669.2:g.155461126C>T GRCh38
NC_000007.13:g.155253821C>T , CM000669.1:g.155253821C>T GRCh37
NC_000007.12:g.154946582C>T NCBI36
NG_007124.1:g.9407C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000297375.4:c.686-1245C>T MANE Select ENSP00000297375.4:n.686-1245C>T
NM_001427.3:c.686-1245C>T NP_001418.2:n.686-1245C>T
NM_001427.4:c.686-1245C>T MANE Select NP_001418.2:n.686-1245C>T
Search 100 bp 5'
Search 100 bp 3'