Canonical Allele Identifier: CA9316553

Gene: COMP

Linked Data

• ClinVar Variation Id: 2238206
• ClinVar RCV Id: RCV002729109 ; RCV003777692
• dbSNP Id: rs142274526
• ExAC: 19:18898381 G / A
• gnomAD v2: 19-18898381-G-A
• gnomAD v3: 19-18787572-G-A
• gnomAD v4: 19-18787572-G-A
• MyVariant Identifiers: chr19:g.18898381G>A (hg19) ; chr19:g.18787572G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18787572G>A , CM000681.2:g.18787572G>A	GRCh38
NC_000019.9:g.18898381G>A , CM000681.1:g.18898381G>A	GRCh37
NC_000019.8:g.18759381G>A	NCBI36
NG_007070.1:g.8734C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1054C>T MANE Select	ENSP00000222271.2:p.Arg352Trp
ENST00000222271.6:c.1054C>T	ENSP00000222271.2:p.Arg352Trp
ENST00000425807.1:c.895C>T	ENSP00000403792.1:p.Arg299Trp
ENST00000542601.6:c.955C>T	ENSP00000439156.2:p.Arg319Trp
NM_000095.2:c.1054C>T	NP_000086.2:p.Arg352Trp
NM_000095.3:c.1054C>T MANE Select	NP_000086.2:p.Arg352Trp