Canonical Allele Identifier: CA369924882

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1420316953
• MyVariant Identifiers: chr7:g.146829541A>C (hg19) ; chr7:g.147132449A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132449A>C , CM000669.2:g.147132449A>C	GRCh38
NC_000007.13:g.146829541A>C , CM000669.1:g.146829541A>C	GRCh37
NC_000007.12:g.146460474A>C	NCBI36
NG_007092.2:g.1021089A>C
NG_007092.3:g.1021449A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1288A>C MANE Select	ENSP00000354778.3:p.Lys430Gln
ENST00000636561.1:n.1191A>C
ENST00000636870.1:n.1150A>C
ENST00000637150.1:n.1217A>C
ENST00000637694.1:n.1191A>C
ENST00000637825.1:n.771A>C
ENST00000638117.1:n.1191A>C
ENST00000361727.7:c.1288A>C	ENSP00000354778.3:p.Lys430Gln
NM_014141.5:c.1288A>C	NP_054860.1:p.Lys430Gln
XM_017011950.2:c.1288A>C	XP_016867439.1:p.Lys430Gln
NM_014141.6:c.1288A>C MANE Select	NP_054860.1:p.Lys430Gln