Canonical Allele Identifier: CA369924890
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1300358055

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132452G>A , CM000669.2:g.147132452G>A GRCh38
NC_000007.13:g.146829544G>A , CM000669.1:g.146829544G>A GRCh37
NC_000007.12:g.146460477G>A NCBI36
NG_007092.2:g.1021092G>A
NG_007092.3:g.1021452G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1291G>A MANE Select ENSP00000354778.3:p.Val431Met
ENST00000636561.1:n.1194G>A
ENST00000636870.1:n.1153G>A
ENST00000637150.1:n.1220G>A
ENST00000637694.1:n.1194G>A
ENST00000637825.1:n.774G>A
ENST00000638117.1:n.1194G>A
ENST00000361727.7:c.1291G>A ENSP00000354778.3:p.Val431Met
NM_014141.5:c.1291G>A NP_054860.1:p.Val431Met
XM_017011950.2:c.1291G>A XP_016867439.1:p.Val431Met
NM_014141.6:c.1291G>A MANE Select NP_054860.1:p.Val431Met