Canonical Allele Identifier: CA404882080
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs1317559224
gnomAD v2: 19-18896487-T-C
gnomAD v3: 19-18785677-T-C
gnomAD v4: 19-18785677-T-C
COSMIC: COSM5693487
MyVariant Identifiers: chr19:g.18896487T>C (hg19) chr19:g.18785677T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785677T>C , CM000681.2:g.18785677T>C GRCh38
NC_000019.9:g.18896487T>C , CM000681.1:g.18896487T>C GRCh37
NC_000019.8:g.18757487T>C NCBI36
NG_007070.1:g.10628A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1664A>G MANE Select ENSP00000222271.2:p.Asn555Ser
ENST00000222271.6:c.1664A>G ENSP00000222271.2:p.Asn555Ser
ENST00000425807.1:c.1505A>G ENSP00000403792.1:p.Asn502Ser
ENST00000542601.6:c.1565A>G ENSP00000439156.2:p.Asn522Ser
NM_000095.2:c.1664A>G NP_000086.2:p.Asn555Ser
NM_000095.3:c.1664A>G MANE Select NP_000086.2:p.Asn555Ser
Search 100 bp 5'
Search 100 bp 3'