Canonical Allele Identifier: CA369924680

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1260959229
• gnomAD v4: 7-147132354-G-C
• MyVariant Identifiers: chr7:g.146829446G>C (hg19) ; chr7:g.147132354G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132354G>C , CM000669.2:g.147132354G>C	GRCh38
NC_000007.13:g.146829446G>C , CM000669.1:g.146829446G>C	GRCh37
NC_000007.12:g.146460379G>C	NCBI36
NG_007092.2:g.1020994G>C
NG_007092.3:g.1021354G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1193G>C MANE Select	ENSP00000354778.3:p.Ser398Thr
ENST00000636561.1:n.1096G>C
ENST00000636870.1:n.1055G>C
ENST00000637150.1:n.1122G>C
ENST00000637694.1:n.1096G>C
ENST00000637825.1:n.676G>C
ENST00000638117.1:n.1096G>C
ENST00000361727.7:c.1193G>C	ENSP00000354778.3:p.Ser398Thr
NM_014141.5:c.1193G>C	NP_054860.1:p.Ser398Thr
XM_017011950.2:c.1193G>C	XP_016867439.1:p.Ser398Thr
NM_014141.6:c.1193G>C MANE Select	NP_054860.1:p.Ser398Thr