Canonical Allele Identifier: CA1750841584
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1800280050
gnomAD v3: 7-147571106-T-A
gnomAD v4: 7-147571106-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147571106T>A , CM000669.2:g.147571106T>A GRCh38
NC_000007.13:g.147268198T>A , CM000669.1:g.147268198T>A GRCh37
NC_000007.12:g.146899131T>A NCBI36
NG_007092.2:g.1459746T>A
NG_007092.3:g.1460106T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1897+8849T>A MANE Select ENSP00000354778.3:n.1897+8849T>A
ENST00000636870.1:n.1759+8849T>A
ENST00000637825.1:n.1380+8849T>A
ENST00000638117.1:n.1800+8849T>A
ENST00000361727.7:c.1897+8849T>A ENSP00000354778.3:n.1897+8849T>A
NM_014141.5:c.1897+8849T>A NP_054860.1:n.1897+8849T>A
XM_006715919.1:c.385+8849T>A XP_006715982.1:n.385+8849T>A
XM_017011950.2:c.1897+8849T>A XP_016867439.1:n.1897+8849T>A
NM_014141.6:c.1897+8849T>A MANE Select NP_054860.1:n.1897+8849T>A
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