Canonical Allele Identifier: CA168786671

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs560993910
• gnomAD v2: 7-147601716-T-C
• gnomAD v3: 7-147904624-T-C
• gnomAD v4: 7-147904624-T-C
• MyVariant Identifiers: chr7:g.147601716T>C (hg19) ; chr7:g.147904624T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147904624T>C , CM000669.2:g.147904624T>C	GRCh38
NC_000007.13:g.147601716T>C , CM000669.1:g.147601716T>C	GRCh37
NC_000007.12:g.147232649T>C	NCBI36
NG_007092.2:g.1793264T>C
NG_007092.3:g.1793624T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.2255+903T>C MANE Select	ENSP00000354778.3:n.2255+903T>C
ENST00000636870.1:n.2117+903T>C
ENST00000637825.1:n.1738+903T>C
ENST00000361727.7:c.2255+903T>C	ENSP00000354778.3:n.2255+903T>C
ENST00000455301.2:n.190+903T>C
ENST00000627772.2:n.428+903T>C
NM_014141.5:c.2255+903T>C	NP_054860.1:n.2255+903T>C
XM_006715919.1:c.743+903T>C	XP_006715982.1:n.743+903T>C
NM_014141.6:c.2255+903T>C MANE Select	NP_054860.1:n.2255+903T>C