Canonical Allele Identifier: CA458577979

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1315845582
• gnomAD v3: 7-147132460-T-C
• gnomAD v4: 7-147132460-T-C
• MyVariant Identifiers: chr7:g.146829552T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132460T>C , CM000669.2:g.147132460T>C	GRCh38
NC_000007.13:g.146829552T>C , CM000669.1:g.146829552T>C	GRCh37
NC_000007.12:g.146460485T>C	NCBI36
NG_007092.2:g.1021100T>C
NG_007092.3:g.1021460T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1299T>C MANE Select	ENSP00000354778.3:p.Val433=
ENST00000636561.1:n.1202T>C
ENST00000636870.1:n.1161T>C
ENST00000637150.1:n.1228T>C
ENST00000637694.1:n.1202T>C
ENST00000637825.1:n.782T>C
ENST00000638117.1:n.1202T>C
ENST00000361727.7:c.1299T>C	ENSP00000354778.3:p.Val433=
NM_014141.5:c.1299T>C	NP_054860.1:p.Val433=
XM_017011950.2:c.1299T>C	XP_016867439.1:p.Val433=
NM_014141.6:c.1299T>C MANE Select	NP_054860.1:p.Val433=