Canonical Allele Identifier: CA4545994
Gene: CNTNAP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 421440
ClinVar RCV Id: RCV000480258 RCV001391701
dbSNP Id: rs548409884
ExAC: 7:146829419 G / A
gnomAD v2: 7-146829419-G-A
gnomAD v3: 7-147132327-G-A
gnomAD v4: 7-147132327-G-A
COSMIC: COSM70226
MyVariant Identifiers: chr7:g.146829419G>A (hg19) chr7:g.147132327G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132327G>A , CM000669.2:g.147132327G>A GRCh38
NC_000007.13:g.146829419G>A , CM000669.1:g.146829419G>A GRCh37
NC_000007.12:g.146460352G>A NCBI36
NG_007092.2:g.1020967G>A
NG_007092.3:g.1021327G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1166G>A MANE Select ENSP00000354778.3:p.Arg389Gln
ENST00000636561.1:n.1069G>A
ENST00000636870.1:n.1028G>A
ENST00000637150.1:n.1095G>A
ENST00000637694.1:n.1069G>A
ENST00000637825.1:n.649G>A
ENST00000638117.1:n.1069G>A
ENST00000361727.7:c.1166G>A ENSP00000354778.3:p.Arg389Gln
NM_014141.5:c.1166G>A NP_054860.1:p.Arg389Gln
XM_017011950.2:c.1166G>A XP_016867439.1:p.Arg389Gln
NM_014141.6:c.1166G>A MANE Select NP_054860.1:p.Arg389Gln
Search 100 bp 5'
Search 100 bp 3'