Canonical Allele Identifier: CA834786650

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1405791979
• gnomAD v3: 7-146792482-A-C
• gnomAD v4: 7-146792482-A-C
• MyVariant Identifiers: chr7:g.146489574A>C (hg19) ; chr7:g.146792482A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.146792482A>C , CM000669.2:g.146792482A>C	GRCh38
NC_000007.13:g.146489574A>C , CM000669.1:g.146489574A>C	GRCh37
NC_000007.12:g.146120507A>C	NCBI36
NG_007092.2:g.681122A>C
NG_007092.3:g.681482A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.208+18101A>C MANE Select	ENSP00000354778.3:n.208+18101A>C
ENST00000636561.1:n.111+18101A>C
ENST00000637150.1:n.137+18101A>C
ENST00000637694.1:n.111+18101A>C
ENST00000638117.1:n.111+18101A>C
ENST00000361727.7:c.208+18101A>C	ENSP00000354778.3:n.208+18101A>C
ENST00000625365.2:c.208+18101A>C	ENSP00000485955.1:n.208+18101A>C
NM_014141.5:c.208+18101A>C	NP_054860.1:n.208+18101A>C
XM_017011950.2:c.208+18101A>C	XP_016867439.1:n.208+18101A>C
NM_014141.6:c.208+18101A>C MANE Select	NP_054860.1:n.208+18101A>C