Canonical Allele Identifier: CA314094
Gene: CNTNAP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 205230
ClinVar RCV Id: RCV000187171 RCV000232850 RCV003343678
dbSNP Id: rs570190374
ExAC: 7:146825923 A / G
gnomAD v2: 7-146825923-A-G
gnomAD v3: 7-147128831-A-G
gnomAD v4: 7-147128831-A-G
MyVariant Identifiers: chr7:g.146825923A>G (hg19) chr7:g.147128831A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147128831A>G , CM000669.2:g.147128831A>G GRCh38
NC_000007.13:g.146825923A>G , CM000669.1:g.146825923A>G GRCh37
NC_000007.12:g.146456856A>G NCBI36
NG_007092.2:g.1017471A>G
NG_007092.3:g.1017831A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1078A>G MANE Select ENSP00000354778.3:p.Asn360Asp
ENST00000636561.1:n.981A>G
ENST00000636870.1:n.940A>G
ENST00000637150.1:n.1007A>G
ENST00000637694.1:n.981A>G
ENST00000637825.1:n.561A>G
ENST00000638117.1:n.981A>G
ENST00000361727.7:c.1078A>G ENSP00000354778.3:p.Asn360Asp
NM_014141.5:c.1078A>G NP_054860.1:p.Asn360Asp
XM_017011950.2:c.1078A>G XP_016867439.1:p.Asn360Asp
NM_014141.6:c.1078A>G MANE Select NP_054860.1:p.Asn360Asp
Search 100 bp 5'
Search 100 bp 3'