Canonical Allele Identifier: CA1750436738
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1802426862

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146778392A>G , CM000669.2:g.146778392A>G GRCh38
NC_000007.13:g.146475484A>G , CM000669.1:g.146475484A>G GRCh37
NC_000007.12:g.146106417A>G NCBI36
NG_007092.2:g.667032A>G
NG_007092.3:g.667392A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.208+4011A>G MANE Select ENSP00000354778.3:n.208+4011A>G
ENST00000636277.1:n.75+4011A>G
ENST00000636561.1:n.111+4011A>G
ENST00000636600.1:n.59-3817A>G
ENST00000637150.1:n.137+4011A>G
ENST00000637694.1:n.111+4011A>G
ENST00000638117.1:n.111+4011A>G
ENST00000361727.7:c.208+4011A>G ENSP00000354778.3:n.208+4011A>G
ENST00000625365.2:c.208+4011A>G ENSP00000485955.1:n.208+4011A>G
NM_014141.5:c.208+4011A>G NP_054860.1:n.208+4011A>G
XM_017011950.2:c.208+4011A>G XP_016867439.1:n.208+4011A>G
NM_014141.6:c.208+4011A>G MANE Select NP_054860.1:n.208+4011A>G