Canonical Allele Identifier: CA340882

Gene: COMP

Linked Data

• ClinVar Variation Id: 9198
• ClinVar RCV Id: RCV000009776 ; RCV001268837 ; RCV001289465 ; RCV002054432
• dbSNP Id: rs28936368
• gnomAD v2: 19-18893939-G-A
• gnomAD v4: 19-18783129-G-A
• MyVariant Identifiers: chr19:g.18893939G>A (hg19) ; chr19:g.18783129G>A (hg38)
• PubMed: PMID:12483304 ; PMID:14684695 ; PMID:20301302

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18783129G>A , CM000681.2:g.18783129G>A	GRCh38
NC_000019.9:g.18893939G>A , CM000681.1:g.18893939G>A	GRCh37
NC_000019.8:g.18754939G>A	NCBI36
NG_007070.1:g.13176C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.2152C>T MANE Select	ENSP00000222271.2:p.Arg718Trp
ENST00000222271.6:c.2152C>T	ENSP00000222271.2:p.Arg718Trp
ENST00000425807.1:c.1993C>T	ENSP00000403792.1:p.Arg665Trp
ENST00000542601.6:c.2053C>T	ENSP00000439156.2:p.Arg685Trp
NM_000095.2:c.2152C>T	NP_000086.2:p.Arg718Trp
NM_000095.3:c.2152C>T MANE Select	NP_000086.2:p.Arg718Trp