Canonical Allele Identifier: CA4545961
Gene: CNTNAP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 390227
ClinVar RCV Id: RCV000436729 RCV002525453
dbSNP Id: rs112266985
ExAC: 7:146825945 G / A
gnomAD v2: 7-146825945-G-A
gnomAD v3: 7-147128853-G-A
gnomAD v4: 7-147128853-G-A
COSMIC: COSN15906655
MyVariant Identifiers: chr7:g.146825945G>A (hg19) chr7:g.147128853G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147128853G>A , CM000669.2:g.147128853G>A GRCh38
NC_000007.13:g.146825945G>A , CM000669.1:g.146825945G>A GRCh37
NC_000007.12:g.146456878G>A NCBI36
NG_007092.2:g.1017493G>A
NG_007092.3:g.1017853G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1083+17G>A MANE Select ENSP00000354778.3:n.1083+17G>A
ENST00000636561.1:n.986+17G>A
ENST00000636870.1:n.945+17G>A
ENST00000637150.1:n.1012+17G>A
ENST00000637694.1:n.986+17G>A
ENST00000637825.1:n.566+17G>A
ENST00000638117.1:n.986+17G>A
ENST00000361727.7:c.1083+17G>A ENSP00000354778.3:n.1083+17G>A
NM_014141.5:c.1083+17G>A NP_054860.1:n.1083+17G>A
XM_017011950.2:c.1083+17G>A XP_016867439.1:n.1083+17G>A
NM_014141.6:c.1083+17G>A MANE Select NP_054860.1:n.1083+17G>A
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