Canonical Allele Identifier: CA369924920

Gene: CNTNAP2

Linked Data

• MyVariant Identifiers: chr7:g.146829558C>G (hg19) ; chr7:g.147132466C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132466C>G , CM000669.2:g.147132466C>G	GRCh38
NC_000007.13:g.146829558C>G , CM000669.1:g.146829558C>G	GRCh37
NC_000007.12:g.146460491C>G	NCBI36
NG_007092.2:g.1021106C>G
NG_007092.3:g.1021466C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1305C>G MANE Select	ENSP00000354778.3:p.Ile435Met
ENST00000636561.1:n.1208C>G
ENST00000636870.1:n.1167C>G
ENST00000637150.1:n.1234C>G
ENST00000637694.1:n.1208C>G
ENST00000637825.1:n.788C>G
ENST00000638117.1:n.1208C>G
ENST00000361727.7:c.1305C>G	ENSP00000354778.3:p.Ile435Met
NM_014141.5:c.1305C>G	NP_054860.1:p.Ile435Met
XM_017011950.2:c.1305C>G	XP_016867439.1:p.Ile435Met
NM_014141.6:c.1305C>G MANE Select	NP_054860.1:p.Ile435Met