Canonical Allele Identifier: CA369924221

Gene: CNTNAP2

Linked Data

• MyVariant Identifiers: chr7:g.146825833A>T (hg19) ; chr7:g.147128741A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147128741A>T , CM000669.2:g.147128741A>T	GRCh38
NC_000007.13:g.146825833A>T , CM000669.1:g.146825833A>T	GRCh37
NC_000007.12:g.146456766A>T	NCBI36
NG_007092.2:g.1017381A>T
NG_007092.3:g.1017741A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.988A>T MANE Select	ENSP00000354778.3:p.Arg330Ter
ENST00000636561.1:n.891A>T
ENST00000636870.1:n.850A>T
ENST00000637150.1:n.917A>T
ENST00000637694.1:n.891A>T
ENST00000637825.1:n.471A>T
ENST00000638117.1:n.891A>T
ENST00000361727.7:c.988A>T	ENSP00000354778.3:p.Arg330Ter
NM_014141.5:c.988A>T	NP_054860.1:p.Arg330Ter
XM_017011950.2:c.988A>T	XP_016867439.1:p.Arg330Ter
NM_014141.6:c.988A>T MANE Select	NP_054860.1:p.Arg330Ter