Canonical Allele Identifier: CA1108410188
Gene: CNTNAP2 HGNC NCBI

Linked Data

gnomAD v3: 7-147571267-C-T
gnomAD v4: 7-147571267-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147571267C>T , CM000669.2:g.147571267C>T GRCh38
NC_000007.13:g.147268359C>T , CM000669.1:g.147268359C>T GRCh37
NC_000007.12:g.146899292C>T NCBI36
NG_007092.2:g.1459907C>T
NG_007092.3:g.1460267C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1897+9010C>T MANE Select ENSP00000354778.3:n.1897+9010C>T
ENST00000636870.1:n.1759+9010C>T
ENST00000637825.1:n.1380+9010C>T
ENST00000638117.1:n.1800+9010C>T
ENST00000361727.7:c.1897+9010C>T ENSP00000354778.3:n.1897+9010C>T
NM_014141.5:c.1897+9010C>T NP_054860.1:n.1897+9010C>T
XM_006715919.1:c.385+9010C>T XP_006715982.1:n.385+9010C>T
XM_017011950.2:c.1897+9010C>T XP_016867439.1:n.1897+9010C>T
NM_014141.6:c.1897+9010C>T MANE Select NP_054860.1:n.1897+9010C>T
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