Canonical Allele Identifier: CA168690900

Gene: CNTNAP2

Linked Data

• ClinVar Variation Id: 1093175
• ClinVar RCV Id: RCV001413257
• dbSNP Id: rs952522529
• gnomAD v2: 7-146829403-C-T
• gnomAD v4: 7-147132311-C-T
• MyVariant Identifiers: chr7:g.146829403C>T (hg19) ; chr7:g.147132311C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132311C>T , CM000669.2:g.147132311C>T	GRCh38
NC_000007.13:g.146829403C>T , CM000669.1:g.146829403C>T	GRCh37
NC_000007.12:g.146460336C>T	NCBI36
NG_007092.2:g.1020951C>T
NG_007092.3:g.1021311C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1150C>T MANE Select	ENSP00000354778.3:p.Leu384=
ENST00000636561.1:n.1053C>T
ENST00000636870.1:n.1012C>T
ENST00000637150.1:n.1079C>T
ENST00000637694.1:n.1053C>T
ENST00000637825.1:n.633C>T
ENST00000638117.1:n.1053C>T
ENST00000361727.7:c.1150C>T	ENSP00000354778.3:p.Leu384=
NM_014141.5:c.1150C>T	NP_054860.1:p.Leu384=
XM_017011950.2:c.1150C>T	XP_016867439.1:p.Leu384=
NM_014141.6:c.1150C>T MANE Select	NP_054860.1:p.Leu384=