Canonical Allele Identifier: CA4545956

Gene: CNTNAP2

Linked Data

• ClinVar Variation Id: 377706
• ClinVar RCV Id: RCV000428581 ; RCV002061359
• dbSNP Id: rs773110260
• ExAC: 7:146825913 A / G
• gnomAD v2: 7-146825913-A-G
• gnomAD v3: 7-147128821-A-G
• gnomAD v4: 7-147128821-A-G
• MyVariant Identifiers: chr7:g.146825913A>G (hg19) ; chr7:g.147128821A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147128821A>G , CM000669.2:g.147128821A>G	GRCh38
NC_000007.13:g.146825913A>G , CM000669.1:g.146825913A>G	GRCh37
NC_000007.12:g.146456846A>G	NCBI36
NG_007092.2:g.1017461A>G
NG_007092.3:g.1017821A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1068A>G MANE Select	ENSP00000354778.3:p.Leu356=
ENST00000636561.1:n.971A>G
ENST00000636870.1:n.930A>G
ENST00000637150.1:n.997A>G
ENST00000637694.1:n.971A>G
ENST00000637825.1:n.551A>G
ENST00000638117.1:n.971A>G
ENST00000361727.7:c.1068A>G	ENSP00000354778.3:p.Leu356=
NM_014141.5:c.1068A>G	NP_054860.1:p.Leu356=
XM_017011950.2:c.1068A>G	XP_016867439.1:p.Leu356=
NM_014141.6:c.1068A>G MANE Select	NP_054860.1:p.Leu356=