Canonical Allele Identifier: CA168786665

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs183301267
• gnomAD v2: 7-147601630-T-C
• gnomAD v3: 7-147904538-T-C
• gnomAD v4: 7-147904538-T-C
• MyVariant Identifiers: chr7:g.147601630T>C (hg19) ; chr7:g.147904538T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147904538T>C , CM000669.2:g.147904538T>C	GRCh38
NC_000007.13:g.147601630T>C , CM000669.1:g.147601630T>C	GRCh37
NC_000007.12:g.147232563T>C	NCBI36
NG_007092.2:g.1793178T>C
NG_007092.3:g.1793538T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.2255+817T>C MANE Select	ENSP00000354778.3:n.2255+817T>C
ENST00000636870.1:n.2117+817T>C
ENST00000637825.1:n.1738+817T>C
ENST00000361727.7:c.2255+817T>C	ENSP00000354778.3:n.2255+817T>C
ENST00000455301.2:n.190+817T>C
ENST00000627772.2:n.428+817T>C
NM_014141.5:c.2255+817T>C	NP_054860.1:n.2255+817T>C
XM_006715919.1:c.743+817T>C	XP_006715982.1:n.743+817T>C
NM_014141.6:c.2255+817T>C MANE Select	NP_054860.1:n.2255+817T>C