Canonical Allele Identifier: CA1108356438
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1802689761
gnomAD v3: 7-146792338-A-C
gnomAD v4: 7-146792338-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146792338A>C , CM000669.2:g.146792338A>C GRCh38
NC_000007.13:g.146489430A>C , CM000669.1:g.146489430A>C GRCh37
NC_000007.12:g.146120363A>C NCBI36
NG_007092.2:g.680978A>C
NG_007092.3:g.681338A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.208+17957A>C MANE Select ENSP00000354778.3:n.208+17957A>C
ENST00000636561.1:n.111+17957A>C
ENST00000637150.1:n.137+17957A>C
ENST00000637694.1:n.111+17957A>C
ENST00000638117.1:n.111+17957A>C
ENST00000361727.7:c.208+17957A>C ENSP00000354778.3:n.208+17957A>C
ENST00000625365.2:c.208+17957A>C ENSP00000485955.1:n.208+17957A>C
NM_014141.5:c.208+17957A>C NP_054860.1:n.208+17957A>C
XM_017011950.2:c.208+17957A>C XP_016867439.1:n.208+17957A>C
NM_014141.6:c.208+17957A>C MANE Select NP_054860.1:n.208+17957A>C
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