Canonical Allele Identifier: CA1108472978

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1799924213
• gnomAD v3: 7-147904386-C-G
• gnomAD v4: 7-147904386-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147904386C>G , CM000669.2:g.147904386C>G	GRCh38
NC_000007.13:g.147601478C>G , CM000669.1:g.147601478C>G	GRCh37
NC_000007.12:g.147232411C>G	NCBI36
NG_007092.2:g.1793026C>G
NG_007092.3:g.1793386C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.2255+665C>G MANE Select	ENSP00000354778.3:n.2255+665C>G
ENST00000636870.1:n.2117+665C>G
ENST00000637825.1:n.1738+665C>G
ENST00000361727.7:c.2255+665C>G	ENSP00000354778.3:n.2255+665C>G
ENST00000455301.2:n.190+665C>G
ENST00000627772.2:n.428+665C>G
NM_014141.5:c.2255+665C>G	NP_054860.1:n.2255+665C>G
XM_006715919.1:c.743+665C>G	XP_006715982.1:n.743+665C>G
NM_014141.6:c.2255+665C>G MANE Select	NP_054860.1:n.2255+665C>G