Canonical Allele Identifier: CA1109065199
Gene: EN2 HGNC NCBI

Linked Data

dbSNP Id: rs1795690364
gnomAD v3: 7-155461152-G-A
gnomAD v4: 7-155461152-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155461152G>A , CM000669.2:g.155461152G>A GRCh38
NC_000007.13:g.155253847G>A , CM000669.1:g.155253847G>A GRCh37
NC_000007.12:g.154946608G>A NCBI36
NG_007124.1:g.9433G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000297375.4:c.686-1219G>A MANE Select ENSP00000297375.4:n.686-1219G>A
NM_001427.3:c.686-1219G>A NP_001418.2:n.686-1219G>A
NM_001427.4:c.686-1219G>A MANE Select NP_001418.2:n.686-1219G>A
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