Canonical Allele Identifier: CA369924606

Gene: CNTNAP2

Linked Data

• ClinVar Variation Id: 1482364
• ClinVar RCV Id: RCV002002910
• dbSNP Id: rs2129285278
• MyVariant Identifiers: chr7:g.146829410T>C (hg19) ; chr7:g.147132318T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132318T>C , CM000669.2:g.147132318T>C	GRCh38
NC_000007.13:g.146829410T>C , CM000669.1:g.146829410T>C	GRCh37
NC_000007.12:g.146460343T>C	NCBI36
NG_007092.2:g.1020958T>C
NG_007092.3:g.1021318T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1157T>C MANE Select	ENSP00000354778.3:p.Val386Ala
ENST00000636561.1:n.1060T>C
ENST00000636870.1:n.1019T>C
ENST00000637150.1:n.1086T>C
ENST00000637694.1:n.1060T>C
ENST00000637825.1:n.640T>C
ENST00000638117.1:n.1060T>C
ENST00000361727.7:c.1157T>C	ENSP00000354778.3:p.Val386Ala
NM_014141.5:c.1157T>C	NP_054860.1:p.Val386Ala
XM_017011950.2:c.1157T>C	XP_016867439.1:p.Val386Ala
NM_014141.6:c.1157T>C MANE Select	NP_054860.1:p.Val386Ala