Canonical Allele Identifier: CA1108356534
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1802694092
gnomAD v3: 7-146792589-T-C
gnomAD v4: 7-146792589-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146792589T>C , CM000669.2:g.146792589T>C GRCh38
NC_000007.13:g.146489681T>C , CM000669.1:g.146489681T>C GRCh37
NC_000007.12:g.146120614T>C NCBI36
NG_007092.2:g.681229T>C
NG_007092.3:g.681589T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.208+18208T>C MANE Select ENSP00000354778.3:n.208+18208T>C
ENST00000636561.1:n.111+18208T>C
ENST00000637150.1:n.137+18208T>C
ENST00000637694.1:n.111+18208T>C
ENST00000638117.1:n.111+18208T>C
ENST00000361727.7:c.208+18208T>C ENSP00000354778.3:n.208+18208T>C
ENST00000625365.2:c.208+18208T>C ENSP00000485955.1:n.208+18208T>C
NM_014141.5:c.208+18208T>C NP_054860.1:n.208+18208T>C
XM_017011950.2:c.208+18208T>C XP_016867439.1:n.208+18208T>C
NM_014141.6:c.208+18208T>C MANE Select NP_054860.1:n.208+18208T>C
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