Canonical Allele Identifier: CA369924744

Gene: CNTNAP2

Linked Data

• ClinVar Variation Id: 1345965
• ClinVar RCV Id: RCV002029763
• dbSNP Id: rs751202112
• gnomAD v4: 7-147132383-G-A
• MyVariant Identifiers: chr7:g.146829475G>A (hg19) ; chr7:g.147132383G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132383G>A , CM000669.2:g.147132383G>A	GRCh38
NC_000007.13:g.146829475G>A , CM000669.1:g.146829475G>A	GRCh37
NC_000007.12:g.146460408G>A	NCBI36
NG_007092.2:g.1021023G>A
NG_007092.3:g.1021383G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1222G>A MANE Select	ENSP00000354778.3:p.Gly408Ser
ENST00000636561.1:n.1125G>A
ENST00000636870.1:n.1084G>A
ENST00000637150.1:n.1151G>A
ENST00000637694.1:n.1125G>A
ENST00000637825.1:n.705G>A
ENST00000638117.1:n.1125G>A
ENST00000361727.7:c.1222G>A	ENSP00000354778.3:p.Gly408Ser
NM_014141.5:c.1222G>A	NP_054860.1:p.Gly408Ser
XM_017011950.2:c.1222G>A	XP_016867439.1:p.Gly408Ser
NM_014141.6:c.1222G>A MANE Select	NP_054860.1:p.Gly408Ser