Canonical Allele Identifier: CA834912230

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1263745323
• gnomAD v3: 7-147877680-A-AT
• gnomAD v4: 7-147877680-A-AT
• MyVariant Identifiers: chr7:g.147574772_147574773insT (hg19) ; chr7:g.147877680_147877681insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147877686dup , CM000669.2:g.147877686dup	GRCh38
NC_000007.13:g.147574778dup , CM000669.1:g.147574778dup	GRCh37
NC_000007.12:g.147205711dup	NCBI36
NG_007092.2:g.1766326dup
NG_007092.3:g.1766686dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.2099-25879dup MANE Select	ENSP00000354778.3:n.2099-25879dup
ENST00000636870.1:n.1961-25879dup
ENST00000637825.1:n.1582-25879dup
ENST00000361727.7:c.2099-25879dup	ENSP00000354778.3:n.2099-25879dup
ENST00000455301.2:n.34-25879dup
ENST00000627772.2:n.272-25879dup
NM_014141.5:c.2099-25879dup	NP_054860.1:n.2099-25879dup
XM_006715919.1:c.587-25879dup	XP_006715982.1:n.587-25879dup
NM_014141.6:c.2099-25879dup MANE Select	NP_054860.1:n.2099-25879dup