Canonical Allele Identifier: CA369924467

Gene: CNTNAP2

Linked Data

• COSMIC: COSM1673631
• MyVariant Identifiers: chr7:g.146829345G>C (hg19) ; chr7:g.147132253G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132253G>C , CM000669.2:g.147132253G>C	GRCh38
NC_000007.13:g.146829345G>C , CM000669.1:g.146829345G>C	GRCh37
NC_000007.12:g.146460278G>C	NCBI36
NG_007092.2:g.1020893G>C
NG_007092.3:g.1021253G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1092G>C MANE Select	ENSP00000354778.3:p.Leu364Phe
ENST00000636561.1:n.995G>C
ENST00000636870.1:n.954G>C
ENST00000637150.1:n.1021G>C
ENST00000637694.1:n.995G>C
ENST00000637825.1:n.575G>C
ENST00000638117.1:n.995G>C
ENST00000361727.7:c.1092G>C	ENSP00000354778.3:p.Leu364Phe
NM_014141.5:c.1092G>C	NP_054860.1:p.Leu364Phe
XM_017011950.2:c.1092G>C	XP_016867439.1:p.Leu364Phe
NM_014141.6:c.1092G>C MANE Select	NP_054860.1:p.Leu364Phe