Canonical Allele Identifier: CA2739279439
Gene: CNTNAP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2868553
ClinVar RCV Id: RCV003614989
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132526T>A , CM000669.2:g.147132526T>A GRCh38
NC_000007.13:g.146829618T>A , CM000669.1:g.146829618T>A GRCh37
NC_000007.12:g.146460551T>A NCBI36
NG_007092.2:g.1021166T>A
NG_007092.3:g.1021526T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.1348+17T>A MANE Select ENSP00000354778.3:n.1348+17T>A
ENST00000636561.1:n.1251+17T>A
ENST00000636870.1:n.1210+17T>A
ENST00000637150.1:n.1277+17T>A
ENST00000637694.1:n.1251+17T>A
ENST00000637825.1:n.831+17T>A
ENST00000638117.1:n.1251+17T>A
ENST00000361727.7:c.1348+17T>A ENSP00000354778.3:n.1348+17T>A
NM_014141.5:c.1348+17T>A NP_054860.1:n.1348+17T>A
XM_017011950.2:c.1348+17T>A XP_016867439.1:n.1348+17T>A
NM_014141.6:c.1348+17T>A MANE Select NP_054860.1:n.1348+17T>A
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