Canonical Allele Identifier: CA2685448898
Gene: CNTNAP2 HGNC NCBI

Linked Data

gnomAD v4: 7-147132525-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132525T>C , CM000669.2:g.147132525T>C GRCh38
NC_000007.13:g.146829617T>C , CM000669.1:g.146829617T>C GRCh37
NC_000007.12:g.146460550T>C NCBI36
NG_007092.2:g.1021165T>C
NG_007092.3:g.1021525T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.1348+16T>C MANE Select ENSP00000354778.3:n.1348+16T>C
ENST00000636561.1:n.1251+16T>C
ENST00000636870.1:n.1210+16T>C
ENST00000637150.1:n.1277+16T>C
ENST00000637694.1:n.1251+16T>C
ENST00000637825.1:n.831+16T>C
ENST00000638117.1:n.1251+16T>C
ENST00000361727.7:c.1348+16T>C ENSP00000354778.3:n.1348+16T>C
NM_014141.5:c.1348+16T>C NP_054860.1:n.1348+16T>C
XM_017011950.2:c.1348+16T>C XP_016867439.1:n.1348+16T>C
NM_014141.6:c.1348+16T>C MANE Select NP_054860.1:n.1348+16T>C
Search 100 bp 5'
Search 100 bp 3'