Canonical Allele Identifier: CA2685448897

Gene: CNTNAP2

Linked Data

• gnomAD v4: 7-147132524-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132524T>C , CM000669.2:g.147132524T>C	GRCh38
NC_000007.13:g.146829616T>C , CM000669.1:g.146829616T>C	GRCh37
NC_000007.12:g.146460549T>C	NCBI36
NG_007092.2:g.1021164T>C
NG_007092.3:g.1021524T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1348+15T>C MANE Select	ENSP00000354778.3:n.1348+15T>C
ENST00000636561.1:n.1251+15T>C
ENST00000636870.1:n.1210+15T>C
ENST00000637150.1:n.1277+15T>C
ENST00000637694.1:n.1251+15T>C
ENST00000637825.1:n.831+15T>C
ENST00000638117.1:n.1251+15T>C
ENST00000361727.7:c.1348+15T>C	ENSP00000354778.3:n.1348+15T>C
NM_014141.5:c.1348+15T>C	NP_054860.1:n.1348+15T>C
XM_017011950.2:c.1348+15T>C	XP_016867439.1:n.1348+15T>C
NM_014141.6:c.1348+15T>C MANE Select	NP_054860.1:n.1348+15T>C