Canonical Allele Identifier: CA168690904
Gene: CNTNAP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 509848
ClinVar RCV Id: RCV000600380 RCV001442215
dbSNP Id: rs375172684
gnomAD v2: 7-146829418-C-A
gnomAD v3: 7-147132326-C-A
gnomAD v4: 7-147132326-C-A
MyVariant Identifiers: chr7:g.146829418C>A (hg19) chr7:g.147132326C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132326C>A , CM000669.2:g.147132326C>A GRCh38
NC_000007.13:g.146829418C>A , CM000669.1:g.146829418C>A GRCh37
NC_000007.12:g.146460351C>A NCBI36
NG_007092.2:g.1020966C>A
NG_007092.3:g.1021326C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1165C>A MANE Select ENSP00000354778.3:p.Arg389=
ENST00000636561.1:n.1068C>A
ENST00000636870.1:n.1027C>A
ENST00000637150.1:n.1094C>A
ENST00000637694.1:n.1068C>A
ENST00000637825.1:n.648C>A
ENST00000638117.1:n.1068C>A
ENST00000361727.7:c.1165C>A ENSP00000354778.3:p.Arg389=
NM_014141.5:c.1165C>A NP_054860.1:p.Arg389=
XM_017011950.2:c.1165C>A XP_016867439.1:p.Arg389=
NM_014141.6:c.1165C>A MANE Select NP_054860.1:p.Arg389=
Search 100 bp 5'
Search 100 bp 3'