Canonical Allele Identifier: CA1109065200
Gene: EN2 HGNC NCBI

Linked Data

dbSNP Id: rs1795690621
gnomAD v3: 7-155461173-G-T
gnomAD v4: 7-155461173-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155461173G>T , CM000669.2:g.155461173G>T GRCh38
NC_000007.13:g.155253868G>T , CM000669.1:g.155253868G>T GRCh37
NC_000007.12:g.154946629G>T NCBI36
NG_007124.1:g.9454G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000297375.4:c.686-1198G>T MANE Select ENSP00000297375.4:n.686-1198G>T
NM_001427.3:c.686-1198G>T NP_001418.2:n.686-1198G>T
NM_001427.4:c.686-1198G>T MANE Select NP_001418.2:n.686-1198G>T
Search 100 bp 5'
Search 100 bp 3'