Canonical Allele Identifier: CA1750436735

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs939733966

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.146778390G>T , CM000669.2:g.146778390G>T	GRCh38
NC_000007.13:g.146475482G>T , CM000669.1:g.146475482G>T	GRCh37
NC_000007.12:g.146106415G>T	NCBI36
NG_007092.2:g.667030G>T
NG_007092.3:g.667390G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.208+4009G>T MANE Select	ENSP00000354778.3:n.208+4009G>T
ENST00000636277.1:n.75+4009G>T
ENST00000636561.1:n.111+4009G>T
ENST00000636600.1:n.59-3819G>T
ENST00000637150.1:n.137+4009G>T
ENST00000637694.1:n.111+4009G>T
ENST00000638117.1:n.111+4009G>T
ENST00000361727.7:c.208+4009G>T	ENSP00000354778.3:n.208+4009G>T
ENST00000625365.2:c.208+4009G>T	ENSP00000485955.1:n.208+4009G>T
NM_014141.5:c.208+4009G>T	NP_054860.1:n.208+4009G>T
XM_017011950.2:c.208+4009G>T	XP_016867439.1:n.208+4009G>T
NM_014141.6:c.208+4009G>T MANE Select	NP_054860.1:n.208+4009G>T