Canonical Allele Identifier: CA578629173

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1199858200
• gnomAD v2: 7-146829325-T-C
• gnomAD v3: 7-147132233-T-C
• gnomAD v4: 7-147132233-T-C
• MyVariant Identifiers: chr7:g.146829325T>C (hg19) ; chr7:g.147132233T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132233T>C , CM000669.2:g.147132233T>C	GRCh38
NC_000007.13:g.146829325T>C , CM000669.1:g.146829325T>C	GRCh37
NC_000007.12:g.146460258T>C	NCBI36
NG_007092.2:g.1020873T>C
NG_007092.3:g.1021233T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1084-12T>C MANE Select	ENSP00000354778.3:n.1084-12T>C
ENST00000636561.1:n.987-12T>C
ENST00000636870.1:n.946-12T>C
ENST00000637150.1:n.1013-12T>C
ENST00000637694.1:n.987-12T>C
ENST00000637825.1:n.567-12T>C
ENST00000638117.1:n.987-12T>C
ENST00000361727.7:c.1084-12T>C	ENSP00000354778.3:n.1084-12T>C
NM_014141.5:c.1084-12T>C	NP_054860.1:n.1084-12T>C
XM_017011950.2:c.1084-12T>C	XP_016867439.1:n.1084-12T>C
NM_014141.6:c.1084-12T>C MANE Select	NP_054860.1:n.1084-12T>C