Canonical Allele Identifier: CA1750443675

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1802690242

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.146792364T>C , CM000669.2:g.146792364T>C	GRCh38
NC_000007.13:g.146489456T>C , CM000669.1:g.146489456T>C	GRCh37
NC_000007.12:g.146120389T>C	NCBI36
NG_007092.2:g.681004T>C
NG_007092.3:g.681364T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.208+17983T>C MANE Select	ENSP00000354778.3:n.208+17983T>C
ENST00000636561.1:n.111+17983T>C
ENST00000637150.1:n.137+17983T>C
ENST00000637694.1:n.111+17983T>C
ENST00000638117.1:n.111+17983T>C
ENST00000361727.7:c.208+17983T>C	ENSP00000354778.3:n.208+17983T>C
ENST00000625365.2:c.208+17983T>C	ENSP00000485955.1:n.208+17983T>C
NM_014141.5:c.208+17983T>C	NP_054860.1:n.208+17983T>C
XM_017011950.2:c.208+17983T>C	XP_016867439.1:n.208+17983T>C
NM_014141.6:c.208+17983T>C MANE Select	NP_054860.1:n.208+17983T>C