Canonical Allele Identifier: CA314114

Gene: CNTNAP2

Linked Data

• ClinVar Variation Id: 205240
• ClinVar RCV Id: RCV000187181 ; RCV001852448 ; RCV002503739
• dbSNP Id: rs753860243
• ExAC: 7:146829590 A / G
• gnomAD v2: 7-146829590-A-G
• gnomAD v3: 7-147132498-A-G
• gnomAD v4: 7-147132498-A-G
• MyVariant Identifiers: chr7:g.146829590A>G (hg19) ; chr7:g.147132498A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132498A>G , CM000669.2:g.147132498A>G	GRCh38
NC_000007.13:g.146829590A>G , CM000669.1:g.146829590A>G	GRCh37
NC_000007.12:g.146460523A>G	NCBI36
NG_007092.2:g.1021138A>G
NG_007092.3:g.1021498A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1337A>G MANE Select	ENSP00000354778.3:p.Asp446Gly
ENST00000636561.1:n.1240A>G
ENST00000636870.1:n.1199A>G
ENST00000637150.1:n.1266A>G
ENST00000637694.1:n.1240A>G
ENST00000637825.1:n.820A>G
ENST00000638117.1:n.1240A>G
ENST00000361727.7:c.1337A>G	ENSP00000354778.3:p.Asp446Gly
NM_014141.5:c.1337A>G	NP_054860.1:p.Asp446Gly
XM_017011950.2:c.1337A>G	XP_016867439.1:p.Asp446Gly
NM_014141.6:c.1337A>G MANE Select	NP_054860.1:p.Asp446Gly