Canonical Allele Identifier: CA1750436652
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1723730126
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146778205T>A , CM000669.2:g.146778205T>A GRCh38
NC_000007.13:g.146475297T>A , CM000669.1:g.146475297T>A GRCh37
NC_000007.12:g.146106230T>A NCBI36
NG_007092.2:g.666845T>A
NG_007092.3:g.667205T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.208+3824T>A MANE Select ENSP00000354778.3:n.208+3824T>A
ENST00000636277.1:n.75+3824T>A
ENST00000636561.1:n.111+3824T>A
ENST00000636600.1:n.58+3824T>A
ENST00000637150.1:n.137+3824T>A
ENST00000637694.1:n.111+3824T>A
ENST00000638117.1:n.111+3824T>A
ENST00000361727.7:c.208+3824T>A ENSP00000354778.3:n.208+3824T>A
ENST00000625365.2:c.208+3824T>A ENSP00000485955.1:n.208+3824T>A
NM_014141.5:c.208+3824T>A NP_054860.1:n.208+3824T>A
XM_017011950.2:c.208+3824T>A XP_016867439.1:n.208+3824T>A
NM_014141.6:c.208+3824T>A MANE Select NP_054860.1:n.208+3824T>A
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