Canonical Allele Identifier: CA369925510

Gene: CNTNAP2

Linked Data

• gnomAD v4: 7-147395668-T-C
• MyVariant Identifiers: chr7:g.147092760T>C (hg19) ; chr7:g.147395668T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147395668T>C , CM000669.2:g.147395668T>C	GRCh38
NC_000007.13:g.147092760T>C , CM000669.1:g.147092760T>C	GRCh37
NC_000007.12:g.146723693T>C	NCBI36
NG_007092.2:g.1284308T>C
NG_007092.3:g.1284668T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1558T>C MANE Select	ENSP00000354778.3:p.Cys520Arg
ENST00000636870.1:n.1420T>C
ENST00000637694.1:n.1461T>C
ENST00000637825.1:n.1041T>C
ENST00000638117.1:n.1461T>C
ENST00000361727.7:c.1558T>C	ENSP00000354778.3:p.Cys520Arg
NM_014141.5:c.1558T>C	NP_054860.1:p.Cys520Arg
XM_006715919.1:c.46T>C	XP_006715982.1:p.Cys16Arg
XM_017011950.2:c.1558T>C	XP_016867439.1:p.Cys520Arg
NM_014141.6:c.1558T>C MANE Select	NP_054860.1:p.Cys520Arg