Canonical Allele Identifier: CA652040570
Gene: CNTNAP2 HGNC NCBI

Linked Data

COSMIC: COSN24386342
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132135A>G , CM000669.2:g.147132135A>G GRCh38
NC_000007.13:g.146829227A>G , CM000669.1:g.146829227A>G GRCh37
NC_000007.12:g.146460160A>G NCBI36
NG_007092.2:g.1020775A>G
NG_007092.3:g.1021135A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.1084-110A>G MANE Select ENSP00000354778.3:n.1084-110A>G
ENST00000636561.1:n.987-110A>G
ENST00000636870.1:n.946-110A>G
ENST00000637150.1:n.1013-110A>G
ENST00000637694.1:n.987-110A>G
ENST00000637825.1:n.567-110A>G
ENST00000638117.1:n.987-110A>G
ENST00000361727.7:c.1084-110A>G ENSP00000354778.3:n.1084-110A>G
NM_014141.5:c.1084-110A>G NP_054860.1:n.1084-110A>G
XM_017011950.2:c.1084-110A>G XP_016867439.1:n.1084-110A>G
NM_014141.6:c.1084-110A>G MANE Select NP_054860.1:n.1084-110A>G
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