Canonical Allele Identifier: CA4545950
Gene: CNTNAP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2978620
ClinVar RCV Id: RCV003839266
dbSNP Id: rs781590630
ExAC: 7:146825865 C / T
gnomAD v2: 7-146825865-C-T
gnomAD v3: 7-147128773-C-T
gnomAD v4: 7-147128773-C-T
COSMIC: COSM3923036
MyVariant Identifiers: chr7:g.146825865C>T (hg19) chr7:g.147128773C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147128773C>T , CM000669.2:g.147128773C>T GRCh38
NC_000007.13:g.146825865C>T , CM000669.1:g.146825865C>T GRCh37
NC_000007.12:g.146456798C>T NCBI36
NG_007092.2:g.1017413C>T
NG_007092.3:g.1017773C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1020C>T MANE Select ENSP00000354778.3:p.Ile340=
ENST00000636561.1:n.923C>T
ENST00000636870.1:n.882C>T
ENST00000637150.1:n.949C>T
ENST00000637694.1:n.923C>T
ENST00000637825.1:n.503C>T
ENST00000638117.1:n.923C>T
ENST00000361727.7:c.1020C>T ENSP00000354778.3:p.Ile340=
NM_014141.5:c.1020C>T NP_054860.1:p.Ile340=
XM_017011950.2:c.1020C>T XP_016867439.1:p.Ile340=
NM_014141.6:c.1020C>T MANE Select NP_054860.1:p.Ile340=
Search 100 bp 5'
Search 100 bp 3'