Canonical Allele Identifier: CA168786646

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs116218213
• gnomAD v2: 7-147601472-G-C
• gnomAD v3: 7-147904380-G-C
• gnomAD v4: 7-147904380-G-C
• MyVariant Identifiers: chr7:g.147601472G>C (hg19) ; chr7:g.147904380G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147904380G>C , CM000669.2:g.147904380G>C	GRCh38
NC_000007.13:g.147601472G>C , CM000669.1:g.147601472G>C	GRCh37
NC_000007.12:g.147232405G>C	NCBI36
NG_007092.2:g.1793020G>C
NG_007092.3:g.1793380G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.2255+659G>C MANE Select	ENSP00000354778.3:n.2255+659G>C
ENST00000636870.1:n.2117+659G>C
ENST00000637825.1:n.1738+659G>C
ENST00000361727.7:c.2255+659G>C	ENSP00000354778.3:n.2255+659G>C
ENST00000455301.2:n.190+659G>C
ENST00000627772.2:n.428+659G>C
NM_014141.5:c.2255+659G>C	NP_054860.1:n.2255+659G>C
XM_006715919.1:c.743+659G>C	XP_006715982.1:n.743+659G>C
NM_014141.6:c.2255+659G>C MANE Select	NP_054860.1:n.2255+659G>C