Canonical Allele Identifier: CA834867130

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1252335353
• gnomAD v3: 7-147200201-A-T
• gnomAD v4: 7-147200201-A-T
• MyVariant Identifiers: chr7:g.146897293A>T (hg19) ; chr7:g.147200201A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147200201A>T , CM000669.2:g.147200201A>T	GRCh38
NC_000007.13:g.146897293A>T , CM000669.1:g.146897293A>T	GRCh37
NC_000007.12:g.146528226A>T	NCBI36
NG_007092.2:g.1088841A>T
NG_007092.3:g.1089201A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1348+67692A>T MANE Select	ENSP00000354778.3:n.1348+67692A>T
ENST00000636870.1:n.1210+67692A>T
ENST00000637694.1:n.1251+67692A>T
ENST00000637825.1:n.831+67692A>T
ENST00000638117.1:n.1251+67692A>T
ENST00000361727.7:c.1348+67692A>T	ENSP00000354778.3:n.1348+67692A>T
NM_014141.5:c.1348+67692A>T	NP_054860.1:n.1348+67692A>T
XM_017011950.2:c.1348+67692A>T	XP_016867439.1:n.1348+67692A>T
NM_014141.6:c.1348+67692A>T MANE Select	NP_054860.1:n.1348+67692A>T