Canonical Allele Identifier: CA2685448754

Gene: CNTNAP2

Linked Data

• gnomAD v4: 7-147128903-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147128903A>G , CM000669.2:g.147128903A>G	GRCh38
NC_000007.13:g.146825995A>G , CM000669.1:g.146825995A>G	GRCh37
NC_000007.12:g.146456928A>G	NCBI36
NG_007092.2:g.1017543A>G
NG_007092.3:g.1017903A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1083+67A>G MANE Select	ENSP00000354778.3:n.1083+67A>G
ENST00000636561.1:n.986+67A>G
ENST00000636870.1:n.945+67A>G
ENST00000637150.1:n.1012+67A>G
ENST00000637694.1:n.986+67A>G
ENST00000637825.1:n.566+67A>G
ENST00000638117.1:n.986+67A>G
ENST00000361727.7:c.1083+67A>G	ENSP00000354778.3:n.1083+67A>G
NM_014141.5:c.1083+67A>G	NP_054860.1:n.1083+67A>G
XM_017011950.2:c.1083+67A>G	XP_016867439.1:n.1083+67A>G
NM_014141.6:c.1083+67A>G MANE Select	NP_054860.1:n.1083+67A>G