Canonical Allele Identifier: CA369924618

Gene: CNTNAP2

Linked Data

• COSMIC: COSM1673632
• MyVariant Identifiers: chr7:g.146829416G>T (hg19) ; chr7:g.147132324G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132324G>T , CM000669.2:g.147132324G>T	GRCh38
NC_000007.13:g.146829416G>T , CM000669.1:g.146829416G>T	GRCh37
NC_000007.12:g.146460349G>T	NCBI36
NG_007092.2:g.1020964G>T
NG_007092.3:g.1021324G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1163G>T MANE Select	ENSP00000354778.3:p.Gly388Val
ENST00000636561.1:n.1066G>T
ENST00000636870.1:n.1025G>T
ENST00000637150.1:n.1092G>T
ENST00000637694.1:n.1066G>T
ENST00000637825.1:n.646G>T
ENST00000638117.1:n.1066G>T
ENST00000361727.7:c.1163G>T	ENSP00000354778.3:p.Gly388Val
NM_014141.5:c.1163G>T	NP_054860.1:p.Gly388Val
XM_017011950.2:c.1163G>T	XP_016867439.1:p.Gly388Val
NM_014141.6:c.1163G>T MANE Select	NP_054860.1:p.Gly388Val