Canonical Allele Identifier: CA632375375
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs756146893
gnomAD v2: 19-18893842-G-C
gnomAD v4: 19-18783032-G-C
MyVariant Identifiers: chr19:g.18893842G>C (hg19) chr19:g.18783032G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18783032G>C , CM000681.2:g.18783032G>C GRCh38
NC_000019.9:g.18893842G>C , CM000681.1:g.18893842G>C GRCh37
NC_000019.8:g.18754842G>C NCBI36
NG_007070.1:g.13273C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.2227+22C>G MANE Select ENSP00000222271.2:n.2227+22C>G
ENST00000222271.6:c.2227+22C>G ENSP00000222271.2:n.2227+22C>G
ENST00000425807.1:c.2068+22C>G ENSP00000403792.1:n.2068+22C>G
ENST00000542601.6:c.2128+22C>G ENSP00000439156.2:n.2128+22C>G
NM_000095.2:c.2227+22C>G NP_000086.2:n.2227+22C>G
NM_000095.3:c.2227+22C>G MANE Select NP_000086.2:n.2227+22C>G
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