Canonical Allele Identifier: CA578629169

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1801388243
• gnomAD v2: 7-146829300-C-T
• MyVariant Identifiers: chr7:g.146829300_146829302delinsTTG (hg19) ; chr7:g.147132208_147132210delinsTTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132208C>T , CM000669.2:g.147132208C>T	GRCh38
NC_000007.13:g.146829300C>T , CM000669.1:g.146829300C>T	GRCh37
NC_000007.12:g.146460233C>T	NCBI36
NG_007092.2:g.1020848C>T
NG_007092.3:g.1021208C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1084-37C>T MANE Select	ENSP00000354778.3:n.1084-37C>T
ENST00000636561.1:n.987-37C>T
ENST00000636870.1:n.946-37C>T
ENST00000637150.1:n.1013-37C>T
ENST00000637694.1:n.987-37C>T
ENST00000637825.1:n.567-37C>T
ENST00000638117.1:n.987-37C>T
ENST00000361727.7:c.1084-37C>T	ENSP00000354778.3:n.1084-37C>T
NM_014141.5:c.1084-37C>T	NP_054860.1:n.1084-37C>T
XM_017011950.2:c.1084-37C>T	XP_016867439.1:n.1084-37C>T
NM_014141.6:c.1084-37C>T MANE Select	NP_054860.1:n.1084-37C>T