Canonical Allele Identifier: CA168644820

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs977828525
• gnomAD v2: 7-146475052-A-G
• MyVariant Identifiers: chr7:g.146475052A>G (hg19) ; chr7:g.146777960A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.146777960A>G , CM000669.2:g.146777960A>G	GRCh38
NC_000007.13:g.146475052A>G , CM000669.1:g.146475052A>G	GRCh37
NC_000007.12:g.146105985A>G	NCBI36
NG_007092.2:g.666600A>G
NG_007092.3:g.666960A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.208+3579A>G MANE Select	ENSP00000354778.3:n.208+3579A>G
ENST00000636277.1:n.75+3579A>G
ENST00000636561.1:n.111+3579A>G
ENST00000636600.1:n.58+3579A>G
ENST00000637150.1:n.137+3579A>G
ENST00000637694.1:n.111+3579A>G
ENST00000638117.1:n.111+3579A>G
ENST00000361727.7:c.208+3579A>G	ENSP00000354778.3:n.208+3579A>G
ENST00000625365.2:c.208+3579A>G	ENSP00000485955.1:n.208+3579A>G
NM_014141.5:c.208+3579A>G	NP_054860.1:n.208+3579A>G
XM_017011950.2:c.208+3579A>G	XP_016867439.1:n.208+3579A>G
NM_014141.6:c.208+3579A>G MANE Select	NP_054860.1:n.208+3579A>G