Canonical Allele Identifier: CA285677
Gene: CNTNAP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 95554
ClinVar RCV Id: RCV000081585 RCV000224007 RCV000987992
dbSNP Id: rs139180845
ExAC: 7:146825928 G / A
gnomAD v2: 7-146825928-G-A
gnomAD v3: 7-147128836-G-A
gnomAD v4: 7-147128836-G-A
MyVariant Identifiers: chr7:g.146825928G>A (hg19) chr7:g.147128836G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147128836G>A , CM000669.2:g.147128836G>A GRCh38
NC_000007.13:g.146825928G>A , CM000669.1:g.146825928G>A GRCh37
NC_000007.12:g.146456861G>A NCBI36
NG_007092.2:g.1017476G>A
NG_007092.3:g.1017836G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.1083G>A MANE Select ENSP00000354778.3:p.Val361=
ENST00000636561.1:n.986G>A
ENST00000636870.1:n.945G>A
ENST00000637150.1:n.1012G>A
ENST00000637694.1:n.986G>A
ENST00000637825.1:n.566G>A
ENST00000638117.1:n.986G>A
ENST00000361727.7:c.1083G>A ENSP00000354778.3:p.Val361=
NM_014141.5:c.1083G>A NP_054860.1:p.Val361=
XM_017011950.2:c.1083G>A XP_016867439.1:p.Val361=
NM_014141.6:c.1083G>A MANE Select NP_054860.1:p.Val361=
Search 100 bp 5'
Search 100 bp 3'