Canonical Allele Identifier: CA169340035
Gene: EN2 HGNC NCBI

Linked Data

dbSNP Id: rs142276710
gnomAD v2: 7-155253954-C-A
gnomAD v3: 7-155461259-C-A
gnomAD v4: 7-155461259-C-A
MyVariant Identifiers: chr7:g.155253954C>A (hg19) chr7:g.155461259C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155461259C>A , CM000669.2:g.155461259C>A GRCh38
NC_000007.13:g.155253954C>A , CM000669.1:g.155253954C>A GRCh37
NC_000007.12:g.154946715C>A NCBI36
NG_007124.1:g.9540C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000297375.4:c.686-1112C>A MANE Select ENSP00000297375.4:n.686-1112C>A
NM_001427.3:c.686-1112C>A NP_001418.2:n.686-1112C>A
NM_001427.4:c.686-1112C>A MANE Select NP_001418.2:n.686-1112C>A
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