Canonical Allele Identifier: CA306258970
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs985887428
gnomAD v4: 19-18789299-T-C
MyVariant Identifiers: chr19:g.18900108T>C (hg19) chr19:g.18789299T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18789299T>C , CM000681.2:g.18789299T>C GRCh38
NC_000019.9:g.18900108T>C , CM000681.1:g.18900108T>C GRCh37
NC_000019.8:g.18761108T>C NCBI36
NG_007070.1:g.7007A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.391-2A>G MANE Select ENSP00000222271.2:n.391-2A>G
ENST00000222271.6:c.391-2A>G ENSP00000222271.2:n.391-2A>G
ENST00000425807.1:c.391-407A>G ENSP00000403792.1:n.391-407A>G
ENST00000542601.6:c.292-2A>G ENSP00000439156.2:n.292-2A>G
NM_000095.2:c.391-2A>G NP_000086.2:n.391-2A>G
NM_000095.3:c.391-2A>G MANE Select NP_000086.2:n.391-2A>G
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