Canonical Allele Identifier: CA4545977

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs776626910
• ExAC: 7:146829312 C / T
• gnomAD v2: 7-146829312-C-T
• gnomAD v4: 7-147132220-C-T
• MyVariant Identifiers: chr7:g.146829312C>T (hg19) ; chr7:g.147132220C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132220C>T , CM000669.2:g.147132220C>T	GRCh38
NC_000007.13:g.146829312C>T , CM000669.1:g.146829312C>T	GRCh37
NC_000007.12:g.146460245C>T	NCBI36
NG_007092.2:g.1020860C>T
NG_007092.3:g.1021220C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1084-25C>T MANE Select	ENSP00000354778.3:n.1084-25C>T
ENST00000636561.1:n.987-25C>T
ENST00000636870.1:n.946-25C>T
ENST00000637150.1:n.1013-25C>T
ENST00000637694.1:n.987-25C>T
ENST00000637825.1:n.567-25C>T
ENST00000638117.1:n.987-25C>T
ENST00000361727.7:c.1084-25C>T	ENSP00000354778.3:n.1084-25C>T
NM_014141.5:c.1084-25C>T	NP_054860.1:n.1084-25C>T
XM_017011950.2:c.1084-25C>T	XP_016867439.1:n.1084-25C>T
NM_014141.6:c.1084-25C>T MANE Select	NP_054860.1:n.1084-25C>T