Canonical Allele Identifier: CA369924627

Gene: CNTNAP2

Linked Data

• MyVariant Identifiers: chr7:g.146829422T>C (hg19) ; chr7:g.147132330T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132330T>C , CM000669.2:g.147132330T>C	GRCh38
NC_000007.13:g.146829422T>C , CM000669.1:g.146829422T>C	GRCh37
NC_000007.12:g.146460355T>C	NCBI36
NG_007092.2:g.1020970T>C
NG_007092.3:g.1021330T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1169T>C MANE Select	ENSP00000354778.3:p.Leu390Pro
ENST00000636561.1:n.1072T>C
ENST00000636870.1:n.1031T>C
ENST00000637150.1:n.1098T>C
ENST00000637694.1:n.1072T>C
ENST00000637825.1:n.652T>C
ENST00000638117.1:n.1072T>C
ENST00000361727.7:c.1169T>C	ENSP00000354778.3:p.Leu390Pro
NM_014141.5:c.1169T>C	NP_054860.1:p.Leu390Pro
XM_017011950.2:c.1169T>C	XP_016867439.1:p.Leu390Pro
NM_014141.6:c.1169T>C MANE Select	NP_054860.1:p.Leu390Pro