Canonical Allele Identifier: CA2840083701
Gene: EN2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155461242C>T , CM000669.2:g.155461242C>T GRCh38
NC_000007.13:g.155253937C>T , CM000669.1:g.155253937C>T GRCh37
NC_000007.12:g.154946698C>T NCBI36
NG_007124.1:g.9523C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297375.4:c.686-1129C>T MANE Select ENSP00000297375.4:n.686-1129C>T
NM_001427.3:c.686-1129C>T NP_001418.2:n.686-1129C>T
NM_001427.4:c.686-1129C>T MANE Select NP_001418.2:n.686-1129C>T
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