Canonical Allele Identifier: CA369924327

Gene: CNTNAP2

Linked Data

• ClinVar Variation Id: 937631
• ClinVar RCV Id: RCV001206685 ; RCV002379783
• dbSNP Id: rs1277235702
• MyVariant Identifiers: chr7:g.146825876G>A (hg19) ; chr7:g.147128784G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147128784G>A , CM000669.2:g.147128784G>A	GRCh38
NC_000007.13:g.146825876G>A , CM000669.1:g.146825876G>A	GRCh37
NC_000007.12:g.146456809G>A	NCBI36
NG_007092.2:g.1017424G>A
NG_007092.3:g.1017784G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1031G>A MANE Select	ENSP00000354778.3:p.Gly344Asp
ENST00000636561.1:n.934G>A
ENST00000636870.1:n.893G>A
ENST00000637150.1:n.960G>A
ENST00000637694.1:n.934G>A
ENST00000637825.1:n.514G>A
ENST00000638117.1:n.934G>A
ENST00000361727.7:c.1031G>A	ENSP00000354778.3:p.Gly344Asp
NM_014141.5:c.1031G>A	NP_054860.1:p.Gly344Asp
XM_017011950.2:c.1031G>A	XP_016867439.1:p.Gly344Asp
NM_014141.6:c.1031G>A MANE Select	NP_054860.1:p.Gly344Asp