Canonical Allele Identifier: CA834786486

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1336954576
• gnomAD v3: 7-146792267-C-G
• gnomAD v4: 7-146792267-C-G
• MyVariant Identifiers: chr7:g.146489359C>G (hg19) ; chr7:g.146792267C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.146792267C>G , CM000669.2:g.146792267C>G	GRCh38
NC_000007.13:g.146489359C>G , CM000669.1:g.146489359C>G	GRCh37
NC_000007.12:g.146120292C>G	NCBI36
NG_007092.2:g.680907C>G
NG_007092.3:g.681267C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.208+17886C>G MANE Select	ENSP00000354778.3:n.208+17886C>G
ENST00000636561.1:n.111+17886C>G
ENST00000637150.1:n.137+17886C>G
ENST00000637694.1:n.111+17886C>G
ENST00000638117.1:n.111+17886C>G
ENST00000361727.7:c.208+17886C>G	ENSP00000354778.3:n.208+17886C>G
ENST00000625365.2:c.208+17886C>G	ENSP00000485955.1:n.208+17886C>G
NM_014141.5:c.208+17886C>G	NP_054860.1:n.208+17886C>G
XM_017011950.2:c.208+17886C>G	XP_016867439.1:n.208+17886C>G
NM_014141.6:c.208+17886C>G MANE Select	NP_054860.1:n.208+17886C>G