Canonical Allele Identifier: CA578797153
Gene: EN2 HGNC NCBI

Linked Data

dbSNP Id: rs1343338511
gnomAD v2: 7-155253859-C-T
gnomAD v3: 7-155461164-C-T
gnomAD v4: 7-155461164-C-T
MyVariant Identifiers: chr7:g.155253859C>T (hg19) chr7:g.155461164C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155461164C>T , CM000669.2:g.155461164C>T GRCh38
NC_000007.13:g.155253859C>T , CM000669.1:g.155253859C>T GRCh37
NC_000007.12:g.154946620C>T NCBI36
NG_007124.1:g.9445C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000297375.4:c.686-1207C>T MANE Select ENSP00000297375.4:n.686-1207C>T
NM_001427.3:c.686-1207C>T NP_001418.2:n.686-1207C>T
NM_001427.4:c.686-1207C>T MANE Select NP_001418.2:n.686-1207C>T
Search 100 bp 5'
Search 100 bp 3'