Canonical Allele Identifier: CA168690436

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs904267244
• gnomAD v4: 7-147128791-C-T
• COSMIC: COSM3431342
• MyVariant Identifiers: chr7:g.146825883C>T (hg19) ; chr7:g.147128791C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147128791C>T , CM000669.2:g.147128791C>T	GRCh38
NC_000007.13:g.146825883C>T , CM000669.1:g.146825883C>T	GRCh37
NC_000007.12:g.146456816C>T	NCBI36
NG_007092.2:g.1017431C>T
NG_007092.3:g.1017791C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1038C>T MANE Select	ENSP00000354778.3:p.Asn346=
ENST00000636561.1:n.941C>T
ENST00000636870.1:n.900C>T
ENST00000637150.1:n.967C>T
ENST00000637694.1:n.941C>T
ENST00000637825.1:n.521C>T
ENST00000638117.1:n.941C>T
ENST00000361727.7:c.1038C>T	ENSP00000354778.3:p.Asn346=
NM_014141.5:c.1038C>T	NP_054860.1:p.Asn346=
XM_017011950.2:c.1038C>T	XP_016867439.1:p.Asn346=
NM_014141.6:c.1038C>T MANE Select	NP_054860.1:p.Asn346=