Canonical Allele Identifier: CA578860223

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1243061941
• gnomAD v2: 7-147579630-T-C
• gnomAD v3: 7-147882538-T-C
• gnomAD v4: 7-147882538-T-C
• MyVariant Identifiers: chr7:g.147579630T>C (hg19) ; chr7:g.147882538T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147882538T>C , CM000669.2:g.147882538T>C	GRCh38
NC_000007.13:g.147579630T>C , CM000669.1:g.147579630T>C	GRCh37
NC_000007.12:g.147210563T>C	NCBI36
NG_007092.2:g.1771178T>C
NG_007092.3:g.1771538T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.2099-21027T>C MANE Select	ENSP00000354778.3:n.2099-21027T>C
ENST00000636870.1:n.1961-21027T>C
ENST00000637825.1:n.1582-21027T>C
ENST00000361727.7:c.2099-21027T>C	ENSP00000354778.3:n.2099-21027T>C
ENST00000455301.2:n.34-21027T>C
ENST00000627772.2:n.272-21027T>C
NM_014141.5:c.2099-21027T>C	NP_054860.1:n.2099-21027T>C
XM_006715919.1:c.587-21027T>C	XP_006715982.1:n.587-21027T>C
NM_014141.6:c.2099-21027T>C MANE Select	NP_054860.1:n.2099-21027T>C