Canonical Allele Identifier: CA2605392306
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs2129285403
gnomAD v3: 7-147132858-T-C
gnomAD v4: 7-147132858-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132858T>C , CM000669.2:g.147132858T>C GRCh38
NC_000007.13:g.146829950T>C , CM000669.1:g.146829950T>C GRCh37
NC_000007.12:g.146460883T>C NCBI36
NG_007092.2:g.1021498T>C
NG_007092.3:g.1021858T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1348+349T>C MANE Select ENSP00000354778.3:n.1348+349T>C
ENST00000636561.1:n.1251+349T>C
ENST00000636870.1:n.1210+349T>C
ENST00000637150.1:n.1277+349T>C
ENST00000637694.1:n.1251+349T>C
ENST00000637825.1:n.831+349T>C
ENST00000638117.1:n.1251+349T>C
ENST00000361727.7:c.1348+349T>C ENSP00000354778.3:n.1348+349T>C
NM_014141.5:c.1348+349T>C NP_054860.1:n.1348+349T>C
XM_017011950.2:c.1348+349T>C XP_016867439.1:n.1348+349T>C
NM_014141.6:c.1348+349T>C MANE Select NP_054860.1:n.1348+349T>C
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