Canonical Allele Identifier: CA404890558
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 1332822
ClinVar RCV Id: RCV001806396 RCV002542418
dbSNP Id: rs2145902345
MyVariant Identifiers: chr19:g.18898459C>T (hg19) chr19:g.18787650C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787650C>T , CM000681.2:g.18787650C>T GRCh38
NC_000019.9:g.18898459C>T , CM000681.1:g.18898459C>T GRCh37
NC_000019.8:g.18759459C>T NCBI36
NG_007070.1:g.8656G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.976G>A MANE Select ENSP00000222271.2:p.Asp326Asn
ENST00000222271.6:c.976G>A ENSP00000222271.2:p.Asp326Asn
ENST00000425807.1:c.817G>A ENSP00000403792.1:p.Asp273Asn
ENST00000542601.6:c.877G>A ENSP00000439156.2:p.Asp293Asn
NM_000095.2:c.976G>A NP_000086.2:p.Asp326Asn
NM_000095.3:c.976G>A MANE Select NP_000086.2:p.Asp326Asn
Search 100 bp 5'
Search 100 bp 3'