Canonical Allele Identifier: CA369927940

Gene: CNTNAP2

Linked Data

• MyVariant Identifiers: chr7:g.147844636G>C (hg19) ; chr7:g.148147544G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148147544G>C , CM000669.2:g.148147544G>C	GRCh38
NC_000007.13:g.147844636G>C , CM000669.1:g.147844636G>C	GRCh37
NC_000007.12:g.147475569G>C	NCBI36
NG_007092.2:g.2036184G>C
NG_007092.3:g.2036544G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.2608G>C MANE Select	ENSP00000354778.3:p.Val870Leu
ENST00000636870.1:n.2470G>C
ENST00000637020.1:n.426G>C
ENST00000361727.7:c.2608G>C	ENSP00000354778.3:p.Val870Leu
ENST00000627772.2:n.781G>C
ENST00000628930.2:c.-216G>C	ENSP00000487516.1:n.-216G>C
ENST00000631199.2:n.337G>C
NM_014141.5:c.2608G>C	NP_054860.1:p.Val870Leu
XM_006715919.1:c.1096G>C	XP_006715982.1:p.Val366Leu
XR_928095.1:n.214+7633C>G
NM_014141.6:c.2608G>C MANE Select	NP_054860.1:p.Val870Leu