Canonical Allele Identifier: CA168786657

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs545282721
• gnomAD v3: 7-147904489-T-G
• gnomAD v4: 7-147904489-T-G
• MyVariant Identifiers: chr7:g.147601581T>G (hg19) ; chr7:g.147904489T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147904489T>G , CM000669.2:g.147904489T>G	GRCh38
NC_000007.13:g.147601581T>G , CM000669.1:g.147601581T>G	GRCh37
NC_000007.12:g.147232514T>G	NCBI36
NG_007092.2:g.1793129T>G
NG_007092.3:g.1793489T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.2255+768T>G MANE Select	ENSP00000354778.3:n.2255+768T>G
ENST00000636870.1:n.2117+768T>G
ENST00000637825.1:n.1738+768T>G
ENST00000361727.7:c.2255+768T>G	ENSP00000354778.3:n.2255+768T>G
ENST00000455301.2:n.190+768T>G
ENST00000627772.2:n.428+768T>G
NM_014141.5:c.2255+768T>G	NP_054860.1:n.2255+768T>G
XM_006715919.1:c.743+768T>G	XP_006715982.1:n.743+768T>G
NM_014141.6:c.2255+768T>G MANE Select	NP_054860.1:n.2255+768T>G