Canonical Allele Identifier: CA1109065128
Gene: EN2 HGNC NCBI

Linked Data

dbSNP Id: rs1795688909
gnomAD v3: 7-155461019-C-A
gnomAD v4: 7-155461019-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155461019C>A , CM000669.2:g.155461019C>A GRCh38
NC_000007.13:g.155253714C>A , CM000669.1:g.155253714C>A GRCh37
NC_000007.12:g.154946475C>A NCBI36
NG_007124.1:g.9300C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297375.4:c.686-1352C>A MANE Select ENSP00000297375.4:n.686-1352C>A
NM_001427.3:c.686-1352C>A NP_001418.2:n.686-1352C>A
NM_001427.4:c.686-1352C>A MANE Select NP_001418.2:n.686-1352C>A
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