Canonical Allele Identifier: CA458578112

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs2129285297
• gnomAD v4: 7-147132394-C-T
• COSMIC: COSM5467058
• MyVariant Identifiers: chr7:g.146829486C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132394C>T , CM000669.2:g.147132394C>T	GRCh38
NC_000007.13:g.146829486C>T , CM000669.1:g.146829486C>T	GRCh37
NC_000007.12:g.146460419C>T	NCBI36
NG_007092.2:g.1021034C>T
NG_007092.3:g.1021394C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1233C>T MANE Select	ENSP00000354778.3:p.Val411=
ENST00000636561.1:n.1136C>T
ENST00000636870.1:n.1095C>T
ENST00000637150.1:n.1162C>T
ENST00000637694.1:n.1136C>T
ENST00000637825.1:n.716C>T
ENST00000638117.1:n.1136C>T
ENST00000361727.7:c.1233C>T	ENSP00000354778.3:p.Val411=
NM_014141.5:c.1233C>T	NP_054860.1:p.Val411=
XM_017011950.2:c.1233C>T	XP_016867439.1:p.Val411=
NM_014141.6:c.1233C>T MANE Select	NP_054860.1:p.Val411=