Canonical Allele Identifier: CA578862055

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1334657906
• gnomAD v2: 7-147601767-G-GT
• gnomAD v3: 7-147904675-G-GT
• gnomAD v4: 7-147904675-G-GT
• MyVariant Identifiers: chr7:g.147601767_147601768insT (hg19) ; chr7:g.147904675_147904676insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147904676dup , CM000669.2:g.147904676dup	GRCh38
NC_000007.13:g.147601768dup , CM000669.1:g.147601768dup	GRCh37
NC_000007.12:g.147232701dup	NCBI36
NG_007092.2:g.1793316dup
NG_007092.3:g.1793676dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.2255+955dup MANE Select	ENSP00000354778.3:n.2255+955dup
ENST00000636870.1:n.2117+955dup
ENST00000637825.1:n.1738+955dup
ENST00000361727.7:c.2255+955dup	ENSP00000354778.3:n.2255+955dup
ENST00000455301.2:n.190+955dup
ENST00000627772.2:n.428+955dup
NM_014141.5:c.2255+955dup	NP_054860.1:n.2255+955dup
XM_006715919.1:c.743+955dup	XP_006715982.1:n.743+955dup
NM_014141.6:c.2255+955dup MANE Select	NP_054860.1:n.2255+955dup