Canonical Allele Identifier: CA4545984

Gene: CNTNAP2

Linked Data

• ClinVar Variation Id: 420390
• ClinVar RCV Id: RCV000485828 ; RCV000644708 ; RCV002313248
• dbSNP Id: rs368057493
• ExAC: 7:146829358 G / T
• gnomAD v2: 7-146829358-G-T
• gnomAD v3: 7-147132266-G-T
• gnomAD v4: 7-147132266-G-T
• MyVariant Identifiers: chr7:g.146829358G>T (hg19) ; chr7:g.147132266G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132266G>T , CM000669.2:g.147132266G>T	GRCh38
NC_000007.13:g.146829358G>T , CM000669.1:g.146829358G>T	GRCh37
NC_000007.12:g.146460291G>T	NCBI36
NG_007092.2:g.1020906G>T
NG_007092.3:g.1021266G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1105G>T MANE Select	ENSP00000354778.3:p.Val369Leu
ENST00000636561.1:n.1008G>T
ENST00000636870.1:n.967G>T
ENST00000637150.1:n.1034G>T
ENST00000637694.1:n.1008G>T
ENST00000637825.1:n.588G>T
ENST00000638117.1:n.1008G>T
ENST00000361727.7:c.1105G>T	ENSP00000354778.3:p.Val369Leu
NM_014141.5:c.1105G>T	NP_054860.1:p.Val369Leu
XM_017011950.2:c.1105G>T	XP_016867439.1:p.Val369Leu
NM_014141.6:c.1105G>T MANE Select	NP_054860.1:p.Val369Leu