Canonical Allele Identifier: CA834924158

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs886191609
• gnomAD v3: 7-147904414-A-T
• gnomAD v4: 7-147904414-A-T
• MyVariant Identifiers: chr7:g.147601506A>T (hg19) ; chr7:g.147904414A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147904414A>T , CM000669.2:g.147904414A>T	GRCh38
NC_000007.13:g.147601506A>T , CM000669.1:g.147601506A>T	GRCh37
NC_000007.12:g.147232439A>T	NCBI36
NG_007092.2:g.1793054A>T
NG_007092.3:g.1793414A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.2255+693A>T MANE Select	ENSP00000354778.3:n.2255+693A>T
ENST00000636870.1:n.2117+693A>T
ENST00000637825.1:n.1738+693A>T
ENST00000361727.7:c.2255+693A>T	ENSP00000354778.3:n.2255+693A>T
ENST00000455301.2:n.190+693A>T
ENST00000627772.2:n.428+693A>T
NM_014141.5:c.2255+693A>T	NP_054860.1:n.2255+693A>T
XM_006715919.1:c.743+693A>T	XP_006715982.1:n.743+693A>T
NM_014141.6:c.2255+693A>T MANE Select	NP_054860.1:n.2255+693A>T