Canonical Allele Identifier: CA314067
Gene: CNTNAP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 205213
ClinVar RCV Id: RCV000187148 RCV001158978
dbSNP Id: rs200282837
ExAC: 7:146829614 T / G
gnomAD v2: 7-146829614-T-G
gnomAD v3: 7-147132522-T-G
gnomAD v4: 7-147132522-T-G
MyVariant Identifiers: chr7:g.146829614T>G (hg19) chr7:g.147132522T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132522T>G , CM000669.2:g.147132522T>G GRCh38
NC_000007.13:g.146829614T>G , CM000669.1:g.146829614T>G GRCh37
NC_000007.12:g.146460547T>G NCBI36
NG_007092.2:g.1021162T>G
NG_007092.3:g.1021522T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.1348+13T>G MANE Select ENSP00000354778.3:n.1348+13T>G
ENST00000636561.1:n.1251+13T>G
ENST00000636870.1:n.1210+13T>G
ENST00000637150.1:n.1277+13T>G
ENST00000637694.1:n.1251+13T>G
ENST00000637825.1:n.831+13T>G
ENST00000638117.1:n.1251+13T>G
ENST00000361727.7:c.1348+13T>G ENSP00000354778.3:n.1348+13T>G
NM_014141.5:c.1348+13T>G NP_054860.1:n.1348+13T>G
XM_017011950.2:c.1348+13T>G XP_016867439.1:n.1348+13T>G
NM_014141.6:c.1348+13T>G MANE Select NP_054860.1:n.1348+13T>G
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