Canonical Allele Identifier: CA2579054201
Gene: CNTNAP2 HGNC NCBI

Linked Data

gnomAD v4: 7-147132512-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132512C>A , CM000669.2:g.147132512C>A GRCh38
NC_000007.13:g.146829604C>A , CM000669.1:g.146829604C>A GRCh37
NC_000007.12:g.146460537C>A NCBI36
NG_007092.2:g.1021152C>A
NG_007092.3:g.1021512C>A

Transcript Alleles

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