Canonical Allele Identifier: CA458577893

Gene: CNTNAP2

Linked Data

• ClinVar Variation Id: 1953336
• ClinVar RCV Id: RCV002700273
• dbSNP Id: rs1801394799
• gnomAD v3: 7-147132416-T-C
• gnomAD v4: 7-147132416-T-C
• MyVariant Identifiers: chr7:g.146829508T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132416T>C , CM000669.2:g.147132416T>C	GRCh38
NC_000007.13:g.146829508T>C , CM000669.1:g.146829508T>C	GRCh37
NC_000007.12:g.146460441T>C	NCBI36
NG_007092.2:g.1021056T>C
NG_007092.3:g.1021416T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1255T>C MANE Select	ENSP00000354778.3:p.Leu419=
ENST00000636561.1:n.1158T>C
ENST00000636870.1:n.1117T>C
ENST00000637150.1:n.1184T>C
ENST00000637694.1:n.1158T>C
ENST00000637825.1:n.738T>C
ENST00000638117.1:n.1158T>C
ENST00000361727.7:c.1255T>C	ENSP00000354778.3:p.Leu419=
NM_014141.5:c.1255T>C	NP_054860.1:p.Leu419=
XM_017011950.2:c.1255T>C	XP_016867439.1:p.Leu419=
NM_014141.6:c.1255T>C MANE Select	NP_054860.1:p.Leu419=