Canonical Allele Identifier: CA16318547

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs75249301
• gnomAD v2: 7-147268217-T-C
• gnomAD v3: 7-147571125-T-C
• gnomAD v4: 7-147571125-T-C
• MyVariant Identifiers: chr7:g.147268217T>C (hg19) ; chr7:g.147571125T>C (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147571125T>C , CM000669.2:g.147571125T>C	GRCh38
NC_000007.13:g.147268217T>C , CM000669.1:g.147268217T>C	GRCh37
NC_000007.12:g.146899150T>C	NCBI36
NG_007092.2:g.1459765T>C
NG_007092.3:g.1460125T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1897+8868T>C MANE Select	ENSP00000354778.3:n.1897+8868T>C
ENST00000636870.1:n.1759+8868T>C
ENST00000637825.1:n.1380+8868T>C
ENST00000638117.1:n.1800+8868T>C
ENST00000361727.7:c.1897+8868T>C	ENSP00000354778.3:n.1897+8868T>C
NM_014141.5:c.1897+8868T>C	NP_054860.1:n.1897+8868T>C
XM_006715919.1:c.385+8868T>C	XP_006715982.1:n.385+8868T>C
XM_017011950.2:c.1897+8868T>C	XP_016867439.1:n.1897+8868T>C
NM_014141.6:c.1897+8868T>C MANE Select	NP_054860.1:n.1897+8868T>C