Canonical Allele Identifier: CA4545981
Gene: CNTNAP2 HGNC NCBI

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)
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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
Search 100 bp 5'
Search 100 bp 3'