Canonical Allele Identifier: CA834859024

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1459578901
• gnomAD v3: 7-147132181-T-C
• gnomAD v4: 7-147132181-T-C
• MyVariant Identifiers: chr7:g.146829273T>C (hg19) ; chr7:g.147132181T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132181T>C , CM000669.2:g.147132181T>C	GRCh38
NC_000007.13:g.146829273T>C , CM000669.1:g.146829273T>C	GRCh37
NC_000007.12:g.146460206T>C	NCBI36
NG_007092.2:g.1020821T>C
NG_007092.3:g.1021181T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1084-64T>C MANE Select	ENSP00000354778.3:n.1084-64T>C
ENST00000636561.1:n.987-64T>C
ENST00000636870.1:n.946-64T>C
ENST00000637150.1:n.1013-64T>C
ENST00000637694.1:n.987-64T>C
ENST00000637825.1:n.567-64T>C
ENST00000638117.1:n.987-64T>C
ENST00000361727.7:c.1084-64T>C	ENSP00000354778.3:n.1084-64T>C
NM_014141.5:c.1084-64T>C	NP_054860.1:n.1084-64T>C
XM_017011950.2:c.1084-64T>C	XP_016867439.1:n.1084-64T>C
NM_014141.6:c.1084-64T>C MANE Select	NP_054860.1:n.1084-64T>C