Canonical Allele Identifier: CA369923212

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147108278G>C , CM000669.2:g.147108278G>C	GRCh38
NC_000007.13:g.146805370G>C , CM000669.1:g.146805370G>C	GRCh37
NC_000007.12:g.146436303G>C	NCBI36
NG_007092.2:g.996918G>C
NG_007092.3:g.997278G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014141.6:c.682G>C MANE Select	NP_054860.1:p.Gly228Arg
ENST00000361727.8:c.682G>C MANE Select	ENSP00000354778.3:p.Gly228Arg
NM_014141.5:c.682G>C	NP_054860.1:p.Gly228Arg
ENST00000361727.7:c.682G>C	ENSP00000354778.3:p.Gly228Arg
ENST00000636561.1:n.585G>C
ENST00000636870.1:n.544G>C
ENST00000637150.1:n.611G>C
ENST00000637555.1:n.340G>C
ENST00000637694.1:n.585G>C
ENST00000637825.1:n.165G>C
ENST00000638117.1:n.585G>C
XM_017011950.2:c.682G>C	XP_016867439.1:p.Gly228Arg