Canonical Allele Identifier: CA168644858

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs574930065
• gnomAD v2: 7-146475413-G-C
• gnomAD v3: 7-146778321-G-C
• gnomAD v4: 7-146778321-G-C
• MyVariant Identifiers: chr7:g.146475413G>C (hg19) ; chr7:g.146778321G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.146778321G>C , CM000669.2:g.146778321G>C	GRCh38
NC_000007.13:g.146475413G>C , CM000669.1:g.146475413G>C	GRCh37
NC_000007.12:g.146106346G>C	NCBI36
NG_007092.2:g.666961G>C
NG_007092.3:g.667321G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.208+3940G>C MANE Select	ENSP00000354778.3:n.208+3940G>C
ENST00000636277.1:n.75+3940G>C
ENST00000636561.1:n.111+3940G>C
ENST00000636600.1:n.59-3888G>C
ENST00000637150.1:n.137+3940G>C
ENST00000637694.1:n.111+3940G>C
ENST00000638117.1:n.111+3940G>C
ENST00000361727.7:c.208+3940G>C	ENSP00000354778.3:n.208+3940G>C
ENST00000625365.2:c.208+3940G>C	ENSP00000485955.1:n.208+3940G>C
NM_014141.5:c.208+3940G>C	NP_054860.1:n.208+3940G>C
XM_017011950.2:c.208+3940G>C	XP_016867439.1:n.208+3940G>C
NM_014141.6:c.208+3940G>C MANE Select	NP_054860.1:n.208+3940G>C