Canonical Allele Identifier: CA1750436586
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1802421098

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146778057G>T , CM000669.2:g.146778057G>T GRCh38
NC_000007.13:g.146475149G>T , CM000669.1:g.146475149G>T GRCh37
NC_000007.12:g.146106082G>T NCBI36
NG_007092.2:g.666697G>T
NG_007092.3:g.667057G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.208+3676G>T MANE Select ENSP00000354778.3:n.208+3676G>T
ENST00000636277.1:n.75+3676G>T
ENST00000636561.1:n.111+3676G>T
ENST00000636600.1:n.58+3676G>T
ENST00000637150.1:n.137+3676G>T
ENST00000637694.1:n.111+3676G>T
ENST00000638117.1:n.111+3676G>T
ENST00000361727.7:c.208+3676G>T ENSP00000354778.3:n.208+3676G>T
ENST00000625365.2:c.208+3676G>T ENSP00000485955.1:n.208+3676G>T
NM_014141.5:c.208+3676G>T NP_054860.1:n.208+3676G>T
XM_017011950.2:c.208+3676G>T XP_016867439.1:n.208+3676G>T
NM_014141.6:c.208+3676G>T MANE Select NP_054860.1:n.208+3676G>T