Canonical Allele Identifier: CA314106

Gene: CNTNAP2

Linked Data

• ClinVar Variation Id: 205236
• ClinVar RCV Id: RCV000187177 ; RCV000540016 ; RCV000656006
• dbSNP Id: rs147815978
• ExAC: 7:146829502 G / T
• gnomAD v2: 7-146829502-G-T
• gnomAD v3: 7-147132410-G-T
• gnomAD v4: 7-147132410-G-T
• MyVariant Identifiers: chr7:g.146829502G>T (hg19) ; chr7:g.147132410G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132410G>T , CM000669.2:g.147132410G>T	GRCh38
NC_000007.13:g.146829502G>T , CM000669.1:g.146829502G>T	GRCh37
NC_000007.12:g.146460435G>T	NCBI36
NG_007092.2:g.1021050G>T
NG_007092.3:g.1021410G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1249G>T MANE Select	ENSP00000354778.3:p.Asp417Tyr
ENST00000636561.1:n.1152G>T
ENST00000636870.1:n.1111G>T
ENST00000637150.1:n.1178G>T
ENST00000637694.1:n.1152G>T
ENST00000637825.1:n.732G>T
ENST00000638117.1:n.1152G>T
ENST00000361727.7:c.1249G>T	ENSP00000354778.3:p.Asp417Tyr
NM_014141.5:c.1249G>T	NP_054860.1:p.Asp417Tyr
XM_017011950.2:c.1249G>T	XP_016867439.1:p.Asp417Tyr
NM_014141.6:c.1249G>T MANE Select	NP_054860.1:p.Asp417Tyr