Canonical Allele Identifier: CA168783391

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1017415311
• MyVariant Identifiers: chr7:g.147574857G>T (hg19) ; chr7:g.147877765G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147877765G>T , CM000669.2:g.147877765G>T	GRCh38
NC_000007.13:g.147574857G>T , CM000669.1:g.147574857G>T	GRCh37
NC_000007.12:g.147205790G>T	NCBI36
NG_007092.2:g.1766405G>T
NG_007092.3:g.1766765G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.2099-25800G>T MANE Select	ENSP00000354778.3:n.2099-25800G>T
ENST00000636870.1:n.1961-25800G>T
ENST00000637825.1:n.1582-25800G>T
ENST00000361727.7:c.2099-25800G>T	ENSP00000354778.3:n.2099-25800G>T
ENST00000455301.2:n.34-25800G>T
ENST00000627772.2:n.272-25800G>T
NM_014141.5:c.2099-25800G>T	NP_054860.1:n.2099-25800G>T
XM_006715919.1:c.587-25800G>T	XP_006715982.1:n.587-25800G>T
NM_014141.6:c.2099-25800G>T MANE Select	NP_054860.1:n.2099-25800G>T