Canonical Allele Identifier: CA834924152

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1391655890
• gnomAD v3: 7-147904407-G-GCC
• gnomAD v4: 7-147904407-G-GCC
• MyVariant Identifiers: chr7:g.147601499_147601500insCC (hg19) ; chr7:g.147904407_147904408insCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147904410_147904411dup , CM000669.2:g.147904410_147904411dup	GRCh38
NC_000007.13:g.147601502_147601503dup , CM000669.1:g.147601502_147601503dup	GRCh37
NC_000007.12:g.147232435_147232436dup	NCBI36
NG_007092.2:g.1793050_1793051dup
NG_007092.3:g.1793410_1793411dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.2255+689_2255+690dup MANE Select	ENSP00000354778.3:n.2255+689_2255+690dup
ENST00000636870.1:n.2117+689_2117+690dup
ENST00000637825.1:n.1738+689_1738+690dup
ENST00000361727.7:c.2255+689_2255+690dup	ENSP00000354778.3:n.2255+689_2255+690dup
ENST00000455301.2:n.190+689_190+690dup
ENST00000627772.2:n.428+689_428+690dup
NM_014141.5:c.2255+689_2255+690dup	NP_054860.1:n.2255+689_2255+690dup
XM_006715919.1:c.743+689_743+690dup	XP_006715982.1:n.743+689_743+690dup
NM_014141.6:c.2255+689_2255+690dup MANE Select	NP_054860.1:n.2255+689_2255+690dup