Canonical Allele Identifier: CA834786708

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1286740996
• MyVariant Identifiers: chr7:g.146489665G>T (hg19) ; chr7:g.146792573G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.146792573G>T , CM000669.2:g.146792573G>T	GRCh38
NC_000007.13:g.146489665G>T , CM000669.1:g.146489665G>T	GRCh37
NC_000007.12:g.146120598G>T	NCBI36
NG_007092.2:g.681213G>T
NG_007092.3:g.681573G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.208+18192G>T MANE Select	ENSP00000354778.3:n.208+18192G>T
ENST00000636561.1:n.111+18192G>T
ENST00000637150.1:n.137+18192G>T
ENST00000637694.1:n.111+18192G>T
ENST00000638117.1:n.111+18192G>T
ENST00000361727.7:c.208+18192G>T	ENSP00000354778.3:n.208+18192G>T
ENST00000625365.2:c.208+18192G>T	ENSP00000485955.1:n.208+18192G>T
NM_014141.5:c.208+18192G>T	NP_054860.1:n.208+18192G>T
XM_017011950.2:c.208+18192G>T	XP_016867439.1:n.208+18192G>T
NM_014141.6:c.208+18192G>T MANE Select	NP_054860.1:n.208+18192G>T