Canonical Allele Identifier: CA404882219
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 2804708
ClinVar RCV Id: RCV003684234
dbSNP Id: rs1182444063
gnomAD v2: 19-18896502-T-C
gnomAD v3: 19-18785692-T-C
gnomAD v4: 19-18785692-T-C
MyVariant Identifiers: chr19:g.18896502T>C (hg19) chr19:g.18785692T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785692T>C , CM000681.2:g.18785692T>C GRCh38
NC_000019.9:g.18896502T>C , CM000681.1:g.18896502T>C GRCh37
NC_000019.8:g.18757502T>C NCBI36
NG_007070.1:g.10613A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1649A>G MANE Select ENSP00000222271.2:p.Asn550Ser
ENST00000222271.6:c.1649A>G ENSP00000222271.2:p.Asn550Ser
ENST00000425807.1:c.1490A>G ENSP00000403792.1:p.Asn497Ser
ENST00000542601.6:c.1550A>G ENSP00000439156.2:p.Asn517Ser
NM_000095.2:c.1649A>G NP_000086.2:p.Asn550Ser
NM_000095.3:c.1649A>G MANE Select NP_000086.2:p.Asn550Ser
Search 100 bp 5'
Search 100 bp 3'