Canonical Allele Identifier: CA4546029
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs763406385
ExAC: 7:146829624 T / A
gnomAD v2: 7-146829624-T-A
gnomAD v4: 7-147132532-T-A
MyVariant Identifiers: chr7:g.146829624T>A (hg19) chr7:g.147132532T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132532T>A , CM000669.2:g.147132532T>A GRCh38
NC_000007.13:g.146829624T>A , CM000669.1:g.146829624T>A GRCh37
NC_000007.12:g.146460557T>A NCBI36
NG_007092.2:g.1021172T>A
NG_007092.3:g.1021532T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.1348+23T>A MANE Select ENSP00000354778.3:n.1348+23T>A
ENST00000636561.1:n.1251+23T>A
ENST00000636870.1:n.1210+23T>A
ENST00000637150.1:n.1277+23T>A
ENST00000637694.1:n.1251+23T>A
ENST00000637825.1:n.831+23T>A
ENST00000638117.1:n.1251+23T>A
ENST00000361727.7:c.1348+23T>A ENSP00000354778.3:n.1348+23T>A
NM_014141.5:c.1348+23T>A NP_054860.1:n.1348+23T>A
XM_017011950.2:c.1348+23T>A XP_016867439.1:n.1348+23T>A
NM_014141.6:c.1348+23T>A MANE Select NP_054860.1:n.1348+23T>A
Search 100 bp 5'
Search 100 bp 3'