Canonical Allele Identifier: CA168690906
Gene: CNTNAP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1942981
ClinVar RCV Id: RCV002647077
dbSNP Id: rs893991199
gnomAD v3: 7-147132375-A-T
gnomAD v4: 7-147132375-A-T
MyVariant Identifiers: chr7:g.146829467A>T (hg19) chr7:g.147132375A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132375A>T , CM000669.2:g.147132375A>T GRCh38
NC_000007.13:g.146829467A>T , CM000669.1:g.146829467A>T GRCh37
NC_000007.12:g.146460400A>T NCBI36
NG_007092.2:g.1021015A>T
NG_007092.3:g.1021375A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1214A>T MANE Select ENSP00000354778.3:p.Asn405Ile
ENST00000636561.1:n.1117A>T
ENST00000636870.1:n.1076A>T
ENST00000637150.1:n.1143A>T
ENST00000637694.1:n.1117A>T
ENST00000637825.1:n.697A>T
ENST00000638117.1:n.1117A>T
ENST00000361727.7:c.1214A>T ENSP00000354778.3:p.Asn405Ile
NM_014141.5:c.1214A>T NP_054860.1:p.Asn405Ile
XM_017011950.2:c.1214A>T XP_016867439.1:p.Asn405Ile
NM_014141.6:c.1214A>T MANE Select NP_054860.1:p.Asn405Ile
Search 100 bp 5'
Search 100 bp 3'