Canonical Allele Identifier: CA212836

Gene: CNTNAP2

Linked Data

• ClinVar Variation Id: 5495
• ClinVar RCV Id: RCV000005830 ; RCV000187170
• dbSNP Id: rs730880276
• gnomAD v4: 7-147485934-G-T
• MyVariant Identifiers: chr7:g.147183026G>T (hg19) ; chr7:g.147485934G>T (hg38)
• PubMed: PMID:19896112

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147485934G>T , CM000669.2:g.147485934G>T	GRCh38
NC_000007.13:g.147183026G>T , CM000669.1:g.147183026G>T	GRCh37
NC_000007.12:g.146813959G>T	NCBI36
NG_007092.2:g.1374574G>T
NG_007092.3:g.1374934G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1671-1G>T MANE Select	ENSP00000354778.3:n.1671-1G>T
ENST00000636870.1:n.1533-1G>T
ENST00000637694.1:n.1574-1G>T
ENST00000637825.1:n.1154-1G>T
ENST00000638117.1:n.1574-1G>T
ENST00000361727.7:c.1671-1G>T	ENSP00000354778.3:n.1671-1G>T
NM_014141.5:c.1671-1G>T	NP_054860.1:n.1671-1G>T
XM_006715919.1:c.159-1G>T	XP_006715982.1:n.159-1G>T
XM_017011950.2:c.1671-1G>T	XP_016867439.1:n.1671-1G>T
NM_014141.6:c.1671-1G>T MANE Select	NP_054860.1:n.1671-1G>T