Canonical Allele Identifier: CA168690892

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs910903599
• gnomAD v4: 7-147132203-T-C
• MyVariant Identifiers: chr7:g.146829295T>C (hg19) ; chr7:g.147132203T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132203T>C , CM000669.2:g.147132203T>C	GRCh38
NC_000007.13:g.146829295T>C , CM000669.1:g.146829295T>C	GRCh37
NC_000007.12:g.146460228T>C	NCBI36
NG_007092.2:g.1020843T>C
NG_007092.3:g.1021203T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1084-42T>C MANE Select	ENSP00000354778.3:n.1084-42T>C
ENST00000636561.1:n.987-42T>C
ENST00000636870.1:n.946-42T>C
ENST00000637150.1:n.1013-42T>C
ENST00000637694.1:n.987-42T>C
ENST00000637825.1:n.567-42T>C
ENST00000638117.1:n.987-42T>C
ENST00000361727.7:c.1084-42T>C	ENSP00000354778.3:n.1084-42T>C
NM_014141.5:c.1084-42T>C	NP_054860.1:n.1084-42T>C
XM_017011950.2:c.1084-42T>C	XP_016867439.1:n.1084-42T>C
NM_014141.6:c.1084-42T>C MANE Select	NP_054860.1:n.1084-42T>C