Canonical Allele Identifier: CA1108410138
Gene: CNTNAP2 HGNC NCBI

Linked Data

gnomAD v3: 7-147571252-T-C
gnomAD v4: 7-147571252-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147571252T>C , CM000669.2:g.147571252T>C GRCh38
NC_000007.13:g.147268344T>C , CM000669.1:g.147268344T>C GRCh37
NC_000007.12:g.146899277T>C NCBI36
NG_007092.2:g.1459892T>C
NG_007092.3:g.1460252T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1897+8995T>C MANE Select ENSP00000354778.3:n.1897+8995T>C
ENST00000636870.1:n.1759+8995T>C
ENST00000637825.1:n.1380+8995T>C
ENST00000638117.1:n.1800+8995T>C
ENST00000361727.7:c.1897+8995T>C ENSP00000354778.3:n.1897+8995T>C
NM_014141.5:c.1897+8995T>C NP_054860.1:n.1897+8995T>C
XM_006715919.1:c.385+8995T>C XP_006715982.1:n.385+8995T>C
XM_017011950.2:c.1897+8995T>C XP_016867439.1:n.1897+8995T>C
NM_014141.6:c.1897+8995T>C MANE Select NP_054860.1:n.1897+8995T>C
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