Canonical Allele Identifier: CA168783405

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs574492080
• gnomAD v2: 7-147575018-C-T
• gnomAD v3: 7-147877926-C-T
• gnomAD v4: 7-147877926-C-T
• MyVariant Identifiers: chr7:g.147575018C>T (hg19) ; chr7:g.147877926C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147877926C>T , CM000669.2:g.147877926C>T	GRCh38
NC_000007.13:g.147575018C>T , CM000669.1:g.147575018C>T	GRCh37
NC_000007.12:g.147205951C>T	NCBI36
NG_007092.2:g.1766566C>T
NG_007092.3:g.1766926C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.2099-25639C>T MANE Select	ENSP00000354778.3:n.2099-25639C>T
ENST00000636870.1:n.1961-25639C>T
ENST00000637825.1:n.1582-25639C>T
ENST00000361727.7:c.2099-25639C>T	ENSP00000354778.3:n.2099-25639C>T
ENST00000455301.2:n.34-25639C>T
ENST00000627772.2:n.272-25639C>T
NM_014141.5:c.2099-25639C>T	NP_054860.1:n.2099-25639C>T
XM_006715919.1:c.587-25639C>T	XP_006715982.1:n.587-25639C>T
NM_014141.6:c.2099-25639C>T MANE Select	NP_054860.1:n.2099-25639C>T