Canonical Allele Identifier: CA369924583

Gene: CNTNAP2

Linked Data

• ClinVar Variation Id: 1377919
• ClinVar RCV Id: RCV001890022
• dbSNP Id: rs1343953862
• gnomAD v2: 7-146829400-T-C
• gnomAD v3: 7-147132308-T-C
• gnomAD v4: 7-147132308-T-C
• MyVariant Identifiers: chr7:g.146829400T>C (hg19) ; chr7:g.147132308T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132308T>C , CM000669.2:g.147132308T>C	GRCh38
NC_000007.13:g.146829400T>C , CM000669.1:g.146829400T>C	GRCh37
NC_000007.12:g.146460333T>C	NCBI36
NG_007092.2:g.1020948T>C
NG_007092.3:g.1021308T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1147T>C MANE Select	ENSP00000354778.3:p.Tyr383His
ENST00000636561.1:n.1050T>C
ENST00000636870.1:n.1009T>C
ENST00000637150.1:n.1076T>C
ENST00000637694.1:n.1050T>C
ENST00000637825.1:n.630T>C
ENST00000638117.1:n.1050T>C
ENST00000361727.7:c.1147T>C	ENSP00000354778.3:p.Tyr383His
NM_014141.5:c.1147T>C	NP_054860.1:p.Tyr383His
XM_017011950.2:c.1147T>C	XP_016867439.1:p.Tyr383His
NM_014141.6:c.1147T>C MANE Select	NP_054860.1:p.Tyr383His