Canonical Allele Identifier: CA404885428
Gene: COMP HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.18896958T>G (hg19) chr19:g.18786148T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18786148T>G , CM000681.2:g.18786148T>G GRCh38
NC_000019.9:g.18896958T>G , CM000681.1:g.18896958T>G GRCh37
NC_000019.8:g.18757958T>G NCBI36
NG_007070.1:g.10157A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1308-2A>C MANE Select ENSP00000222271.2:n.1308-2A>C
ENST00000222271.6:c.1308-2A>C ENSP00000222271.2:n.1308-2A>C
ENST00000425807.1:c.1149-2A>C ENSP00000403792.1:n.1149-2A>C
ENST00000542601.6:c.1209-2A>C ENSP00000439156.2:n.1209-2A>C
ENST00000612179.1:n.558-2A>C
NM_000095.2:c.1308-2A>C NP_000086.2:n.1308-2A>C
NM_000095.3:c.1308-2A>C MANE Select NP_000086.2:n.1308-2A>C
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