Canonical Allele Identifier: CA2504548480
Gene: EN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155461176G>T , CM000669.2:g.155461176G>T GRCh38
NC_000007.13:g.155253871G>T , CM000669.1:g.155253871G>T GRCh37
NC_000007.12:g.154946632G>T NCBI36
NG_007124.1:g.9457G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000297375.4:c.686-1195G>T MANE Select ENSP00000297375.4:n.686-1195G>T
NM_001427.3:c.686-1195G>T NP_001418.2:n.686-1195G>T
NM_001427.4:c.686-1195G>T MANE Select NP_001418.2:n.686-1195G>T