Canonical Allele Identifier: CA168591576

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1001375447
• gnomAD v3: 7-146351691-T-C
• gnomAD v4: 7-146351691-T-C
• MyVariant Identifiers: chr7:g.146048783T>C (hg19) ; chr7:g.146351691T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.146351691T>C , CM000669.2:g.146351691T>C	GRCh38
NC_000007.13:g.146048783T>C , CM000669.1:g.146048783T>C	GRCh37
NC_000007.12:g.145679716T>C	NCBI36
NG_007092.2:g.240331T>C
NG_007092.3:g.240691T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.97+234718T>C MANE Select	ENSP00000354778.3:n.97+234718T>C
ENST00000637150.1:n.26+234718T>C
ENST00000361727.7:c.97+234718T>C	ENSP00000354778.3:n.97+234718T>C
ENST00000625365.2:c.97+234718T>C	ENSP00000485955.1:n.97+234718T>C
NM_014141.5:c.97+234718T>C	NP_054860.1:n.97+234718T>C
XM_017011950.2:c.97+234718T>C	XP_016867439.1:n.97+234718T>C
NM_014141.6:c.97+234718T>C MANE Select	NP_054860.1:n.97+234718T>C