Canonical Allele Identifier: CA4545992
Gene: CNTNAP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1102306
ClinVar RCV Id: RCV001425535 RCV002377679
dbSNP Id: rs755129419
ExAC: 7:146829414 C / T
gnomAD v2: 7-146829414-C-T
gnomAD v3: 7-147132322-C-T
gnomAD v4: 7-147132322-C-T
MyVariant Identifiers: chr7:g.146829414C>T (hg19) chr7:g.147132322C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132322C>T , CM000669.2:g.147132322C>T GRCh38
NC_000007.13:g.146829414C>T , CM000669.1:g.146829414C>T GRCh37
NC_000007.12:g.146460347C>T NCBI36
NG_007092.2:g.1020962C>T
NG_007092.3:g.1021322C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1161C>T MANE Select ENSP00000354778.3:p.Pro387=
ENST00000636561.1:n.1064C>T
ENST00000636870.1:n.1023C>T
ENST00000637150.1:n.1090C>T
ENST00000637694.1:n.1064C>T
ENST00000637825.1:n.644C>T
ENST00000638117.1:n.1064C>T
ENST00000361727.7:c.1161C>T ENSP00000354778.3:p.Pro387=
NM_014141.5:c.1161C>T NP_054860.1:p.Pro387=
XM_017011950.2:c.1161C>T XP_016867439.1:p.Pro387=
NM_014141.6:c.1161C>T MANE Select NP_054860.1:p.Pro387=
Search 100 bp 5'
Search 100 bp 3'