Canonical Allele Identifier: CA1108410089
Gene: CNTNAP2 HGNC NCBI

Linked Data

gnomAD v3: 7-147571168-G-A
gnomAD v4: 7-147571168-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147571168G>A , CM000669.2:g.147571168G>A GRCh38
NC_000007.13:g.147268260G>A , CM000669.1:g.147268260G>A GRCh37
NC_000007.12:g.146899193G>A NCBI36
NG_007092.2:g.1459808G>A
NG_007092.3:g.1460168G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1897+8911G>A MANE Select ENSP00000354778.3:n.1897+8911G>A
ENST00000636870.1:n.1759+8911G>A
ENST00000637825.1:n.1380+8911G>A
ENST00000638117.1:n.1800+8911G>A
ENST00000361727.7:c.1897+8911G>A ENSP00000354778.3:n.1897+8911G>A
NM_014141.5:c.1897+8911G>A NP_054860.1:n.1897+8911G>A
XM_006715919.1:c.385+8911G>A XP_006715982.1:n.385+8911G>A
XM_017011950.2:c.1897+8911G>A XP_016867439.1:n.1897+8911G>A
NM_014141.6:c.1897+8911G>A MANE Select NP_054860.1:n.1897+8911G>A
Search 100 bp 5'
Search 100 bp 3'