Canonical Allele Identifier: CA16618376

Gene: CNTNAP2

Linked Data

• ClinVar Variation Id: 418708
• ClinVar RCV Id: RCV000485090 ; RCV001851144
• dbSNP Id: rs367878797
• gnomAD v3: 7-147128783-G-A
• gnomAD v4: 7-147128783-G-A
• MyVariant Identifiers: chr7:g.146825875G>A (hg19) ; chr7:g.147128783G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147128783G>A , CM000669.2:g.147128783G>A	GRCh38
NC_000007.13:g.146825875G>A , CM000669.1:g.146825875G>A	GRCh37
NC_000007.12:g.146456808G>A	NCBI36
NG_007092.2:g.1017423G>A
NG_007092.3:g.1017783G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1030G>A MANE Select	ENSP00000354778.3:p.Gly344Ser
ENST00000636561.1:n.933G>A
ENST00000636870.1:n.892G>A
ENST00000637150.1:n.959G>A
ENST00000637694.1:n.933G>A
ENST00000637825.1:n.513G>A
ENST00000638117.1:n.933G>A
ENST00000361727.7:c.1030G>A	ENSP00000354778.3:p.Gly344Ser
NM_014141.5:c.1030G>A	NP_054860.1:p.Gly344Ser
XM_017011950.2:c.1030G>A	XP_016867439.1:p.Gly344Ser
NM_014141.6:c.1030G>A MANE Select	NP_054860.1:p.Gly344Ser