Canonical Allele Identifier: CA834929617

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1289543530
• MyVariant Identifiers: chr7:g.147615666T>G (hg19) ; chr7:g.147918574T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147918574T>G , CM000669.2:g.147918574T>G	GRCh38
NC_000007.13:g.147615666T>G , CM000669.1:g.147615666T>G	GRCh37
NC_000007.12:g.147246599T>G	NCBI36
NG_007092.2:g.1807214T>G
NG_007092.3:g.1807574T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.2255+14853T>G MANE Select	ENSP00000354778.3:n.2255+14853T>G
ENST00000636870.1:n.2117+14853T>G
ENST00000637825.1:n.1738+14853T>G
ENST00000361727.7:c.2255+14853T>G	ENSP00000354778.3:n.2255+14853T>G
ENST00000455301.2:n.190+14853T>G
ENST00000627772.2:n.428+14853T>G
NM_014141.5:c.2255+14853T>G	NP_054860.1:n.2255+14853T>G
XM_006715919.1:c.743+14853T>G	XP_006715982.1:n.743+14853T>G
NM_014141.6:c.2255+14853T>G MANE Select	NP_054860.1:n.2255+14853T>G