Canonical Allele Identifier: CA578629171

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1470289903
• gnomAD v2: 7-146829310-C-T
• gnomAD v3: 7-147132218-C-T
• gnomAD v4: 7-147132218-C-T
• MyVariant Identifiers: chr7:g.146829310C>T (hg19) ; chr7:g.147132218C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132218C>T , CM000669.2:g.147132218C>T	GRCh38
NC_000007.13:g.146829310C>T , CM000669.1:g.146829310C>T	GRCh37
NC_000007.12:g.146460243C>T	NCBI36
NG_007092.2:g.1020858C>T
NG_007092.3:g.1021218C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1084-27C>T MANE Select	ENSP00000354778.3:n.1084-27C>T
ENST00000636561.1:n.987-27C>T
ENST00000636870.1:n.946-27C>T
ENST00000637150.1:n.1013-27C>T
ENST00000637694.1:n.987-27C>T
ENST00000637825.1:n.567-27C>T
ENST00000638117.1:n.987-27C>T
ENST00000361727.7:c.1084-27C>T	ENSP00000354778.3:n.1084-27C>T
NM_014141.5:c.1084-27C>T	NP_054860.1:n.1084-27C>T
XM_017011950.2:c.1084-27C>T	XP_016867439.1:n.1084-27C>T
NM_014141.6:c.1084-27C>T MANE Select	NP_054860.1:n.1084-27C>T