Canonical Allele Identifier: CA117553
Gene: CNTNAP2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.147877298A>G
GRCh37 chr7:g.147574390A>G
gnomAD v2:
7:147574390 A / G
gnomAD v3:
7:147877298 A / G
gnomAD v4:
chr7-147877298-A-G
Joint Max Group AF 0.68693284 (AFR)
Genomes Max Group AF 0.68693284 (AFR)
ClinVar RCV:
RCV000005826
ClinVar Variation:
5491
dbSNP:
2710102
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147877298A>G , CM000669.2:g.147877298A>G GRCh38
NC_000007.13:g.147574390A>G , CM000669.1:g.147574390A>G GRCh37
NC_000007.12:g.147205323A>G NCBI36
NG_007092.2:g.1765938A>G
NG_007092.3:g.1766298A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.2099-26267A>G MANE Select ENSP00000354778.3:n.2099-26267A>G
ENST00000636870.1:n.1961-26267A>G
ENST00000637825.1:n.1582-26267A>G
ENST00000361727.7:c.2099-26267A>G ENSP00000354778.3:n.2099-26267A>G
ENST00000455301.2:n.34-26267A>G
ENST00000627772.2:n.272-26267A>G
NM_014141.5:c.2099-26267A>G NP_054860.1:n.2099-26267A>G
XM_006715919.1:c.587-26267A>G XP_006715982.1:n.587-26267A>G
NM_014141.6:c.2099-26267A>G MANE Select NP_054860.1:n.2099-26267A>G
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