Canonical Allele Identifier: CA369924628

Gene: CNTNAP2

Linked Data

• COSMIC: COSM74196
• MyVariant Identifiers: chr7:g.146829424A>C (hg19) ; chr7:g.147132332A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132332A>C , CM000669.2:g.147132332A>C	GRCh38
NC_000007.13:g.146829424A>C , CM000669.1:g.146829424A>C	GRCh37
NC_000007.12:g.146460357A>C	NCBI36
NG_007092.2:g.1020972A>C
NG_007092.3:g.1021332A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1171A>C MANE Select	ENSP00000354778.3:p.Asn391His
ENST00000636561.1:n.1074A>C
ENST00000636870.1:n.1033A>C
ENST00000637150.1:n.1100A>C
ENST00000637694.1:n.1074A>C
ENST00000637825.1:n.654A>C
ENST00000638117.1:n.1074A>C
ENST00000361727.7:c.1171A>C	ENSP00000354778.3:p.Asn391His
NM_014141.5:c.1171A>C	NP_054860.1:p.Asn391His
XM_017011950.2:c.1171A>C	XP_016867439.1:p.Asn391His
NM_014141.6:c.1171A>C MANE Select	NP_054860.1:p.Asn391His