Canonical Allele Identifier: CA288751

Gene: CNTNAP2

Linked Data

• ClinVar Variation Id: 128798
• ClinVar RCV Id: RCV002313871
• dbSNP Id: rs34456867
• ExAC: 7:146829500 C / T
• gnomAD v2: 7-146829500-C-T
• gnomAD v3: 7-147132408-C-T
• gnomAD v4: 7-147132408-C-T
• COSMIC: COSM122245
• MyVariant Identifiers: chr7:g.146829500C>T (hg19) ; chr7:g.147132408C>T (hg38)
• PubMed: PMID:24807205 ; PMID:25621974

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132408C>T , CM000669.2:g.147132408C>T	GRCh38
NC_000007.13:g.146829500C>T , CM000669.1:g.146829500C>T	GRCh37
NC_000007.12:g.146460433C>T	NCBI36
NG_007092.2:g.1021048C>T
NG_007092.3:g.1021408C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1247C>T MANE Select	ENSP00000354778.3:p.Ala416Val
ENST00000636561.1:n.1150C>T
ENST00000636870.1:n.1109C>T
ENST00000637150.1:n.1176C>T
ENST00000637694.1:n.1150C>T
ENST00000637825.1:n.730C>T
ENST00000638117.1:n.1150C>T
ENST00000361727.7:c.1247C>T	ENSP00000354778.3:p.Ala416Val
NM_014141.5:c.1247C>T	NP_054860.1:p.Ala416Val
XM_017011950.2:c.1247C>T	XP_016867439.1:p.Ala416Val
NM_014141.6:c.1247C>T MANE Select	NP_054860.1:p.Ala416Val