Canonical Allele Identifier: CA2517427348
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147571157A>T , CM000669.2:g.147571157A>T GRCh38
NC_000007.13:g.147268249A>T , CM000669.1:g.147268249A>T GRCh37
NC_000007.12:g.146899182A>T NCBI36
NG_007092.2:g.1459797A>T
NG_007092.3:g.1460157A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1897+8900A>T MANE Select ENSP00000354778.3:n.1897+8900A>T
ENST00000636870.1:n.1759+8900A>T
ENST00000637825.1:n.1380+8900A>T
ENST00000638117.1:n.1800+8900A>T
ENST00000361727.7:c.1897+8900A>T ENSP00000354778.3:n.1897+8900A>T
NM_014141.5:c.1897+8900A>T NP_054860.1:n.1897+8900A>T
XM_006715919.1:c.385+8900A>T XP_006715982.1:n.385+8900A>T
XM_017011950.2:c.1897+8900A>T XP_016867439.1:n.1897+8900A>T
NM_014141.6:c.1897+8900A>T MANE Select NP_054860.1:n.1897+8900A>T