Canonical Allele Identifier: CA834924174

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1202342711
• gnomAD v3: 7-147904478-C-T
• gnomAD v4: 7-147904478-C-T
• MyVariant Identifiers: chr7:g.147601570C>T (hg19) ; chr7:g.147904478C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147904478C>T , CM000669.2:g.147904478C>T	GRCh38
NC_000007.13:g.147601570C>T , CM000669.1:g.147601570C>T	GRCh37
NC_000007.12:g.147232503C>T	NCBI36
NG_007092.2:g.1793118C>T
NG_007092.3:g.1793478C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.2255+757C>T MANE Select	ENSP00000354778.3:n.2255+757C>T
ENST00000636870.1:n.2117+757C>T
ENST00000637825.1:n.1738+757C>T
ENST00000361727.7:c.2255+757C>T	ENSP00000354778.3:n.2255+757C>T
ENST00000455301.2:n.190+757C>T
ENST00000627772.2:n.428+757C>T
NM_014141.5:c.2255+757C>T	NP_054860.1:n.2255+757C>T
XM_006715919.1:c.743+757C>T	XP_006715982.1:n.743+757C>T
NM_014141.6:c.2255+757C>T MANE Select	NP_054860.1:n.2255+757C>T