Canonical Allele Identifier: CA2716261954
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs2129189359
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146792518T>C , CM000669.2:g.146792518T>C GRCh38
NC_000007.13:g.146489610T>C , CM000669.1:g.146489610T>C GRCh37
NC_000007.12:g.146120543T>C NCBI36
NG_007092.2:g.681158T>C
NG_007092.3:g.681518T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.208+18137T>C MANE Select ENSP00000354778.3:n.208+18137T>C
ENST00000636561.1:n.111+18137T>C
ENST00000637150.1:n.137+18137T>C
ENST00000637694.1:n.111+18137T>C
ENST00000638117.1:n.111+18137T>C
ENST00000361727.7:c.208+18137T>C ENSP00000354778.3:n.208+18137T>C
ENST00000625365.2:c.208+18137T>C ENSP00000485955.1:n.208+18137T>C
NM_014141.5:c.208+18137T>C NP_054860.1:n.208+18137T>C
XM_017011950.2:c.208+18137T>C XP_016867439.1:n.208+18137T>C
NM_014141.6:c.208+18137T>C MANE Select NP_054860.1:n.208+18137T>C
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