Canonical Allele Identifier: CA4545981

Gene: CNTNAP2

Linked Data

• ClinVar Variation Id: 2270057
• ClinVar RCV Id: RCV002804480 ; RCV003143547
• dbSNP Id: rs761910664
• ExAC: 7:146829349 T / C
• gnomAD v2: 7-146829349-T-C
• gnomAD v4: 7-147132257-T-C
• MyVariant Identifiers: chr7:g.146829349T>C (hg19) ; chr7:g.147132257T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132257T>C , CM000669.2:g.147132257T>C	GRCh38
NC_000007.13:g.146829349T>C , CM000669.1:g.146829349T>C	GRCh37
NC_000007.12:g.146460282T>C	NCBI36
NG_007092.2:g.1020897T>C
NG_007092.3:g.1021257T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1096T>C MANE Select	ENSP00000354778.3:p.Phe366Leu
ENST00000636561.1:n.999T>C
ENST00000636870.1:n.958T>C
ENST00000637150.1:n.1025T>C
ENST00000637694.1:n.999T>C
ENST00000637825.1:n.579T>C
ENST00000638117.1:n.999T>C
ENST00000361727.7:c.1096T>C	ENSP00000354778.3:p.Phe366Leu
NM_014141.5:c.1096T>C	NP_054860.1:p.Phe366Leu
XM_017011950.2:c.1096T>C	XP_016867439.1:p.Phe366Leu
NM_014141.6:c.1096T>C MANE Select	NP_054860.1:p.Phe366Leu