Canonical Allele Identifier: CA2716009462

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs562862384

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147200597G>C , CM000669.2:g.147200597G>C	GRCh38
NC_000007.13:g.146897689G>C , CM000669.1:g.146897689G>C	GRCh37
NC_000007.12:g.146528622G>C	NCBI36
NG_007092.2:g.1089237G>C
NG_007092.3:g.1089597G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1348+68088G>C MANE Select	ENSP00000354778.3:n.1348+68088G>C
ENST00000636870.1:n.1210+68088G>C
ENST00000637694.1:n.1251+68088G>C
ENST00000637825.1:n.831+68088G>C
ENST00000638117.1:n.1251+68088G>C
ENST00000361727.7:c.1348+68088G>C	ENSP00000354778.3:n.1348+68088G>C
NM_014141.5:c.1348+68088G>C	NP_054860.1:n.1348+68088G>C
XM_017011950.2:c.1348+68088G>C	XP_016867439.1:n.1348+68088G>C
NM_014141.6:c.1348+68088G>C MANE Select	NP_054860.1:n.1348+68088G>C