Canonical Allele Identifier: CA578605298

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs371536143
• gnomAD v2: 7-146825944-C-A
• gnomAD v3: 7-147128852-C-A
• gnomAD v4: 7-147128852-C-A
• MyVariant Identifiers: chr7:g.146825944C>A (hg19) ; chr7:g.147128852C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147128852C>A , CM000669.2:g.147128852C>A	GRCh38
NC_000007.13:g.146825944C>A , CM000669.1:g.146825944C>A	GRCh37
NC_000007.12:g.146456877C>A	NCBI36
NG_007092.2:g.1017492C>A
NG_007092.3:g.1017852C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1083+16C>A MANE Select	ENSP00000354778.3:n.1083+16C>A
ENST00000636561.1:n.986+16C>A
ENST00000636870.1:n.945+16C>A
ENST00000637150.1:n.1012+16C>A
ENST00000637694.1:n.986+16C>A
ENST00000637825.1:n.566+16C>A
ENST00000638117.1:n.986+16C>A
ENST00000361727.7:c.1083+16C>A	ENSP00000354778.3:n.1083+16C>A
NM_014141.5:c.1083+16C>A	NP_054860.1:n.1083+16C>A
XM_017011950.2:c.1083+16C>A	XP_016867439.1:n.1083+16C>A
NM_014141.6:c.1083+16C>A MANE Select	NP_054860.1:n.1083+16C>A