Canonical Allele Identifier: CA404884023
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785963A>C , CM000681.2:g.18785963A>C GRCh38
NC_000019.9:g.18896773A>C , CM000681.1:g.18896773A>C GRCh37
NC_000019.8:g.18757773A>C NCBI36
NG_007070.1:g.10342T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1489+2T>G MANE Select ENSP00000222271.2:n.1489+2T>G
ENST00000222271.6:c.1489+2T>G ENSP00000222271.2:n.1489+2T>G
ENST00000425807.1:c.1330+2T>G ENSP00000403792.1:n.1330+2T>G
ENST00000542601.6:c.1390+2T>G ENSP00000439156.2:n.1390+2T>G
NM_000095.2:c.1489+2T>G NP_000086.2:n.1489+2T>G
NM_000095.3:c.1489+2T>G MANE Select NP_000086.2:n.1489+2T>G