Canonical Allele Identifier: CA632375378
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs116499541
gnomAD v2: 19-18893856-C-G
gnomAD v3: 19-18783046-C-G
gnomAD v4: 19-18783046-C-G
MyVariant Identifiers: chr19:g.18893856C>G (hg19) chr19:g.18783046C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18783046C>G , CM000681.2:g.18783046C>G GRCh38
NC_000019.9:g.18893856C>G , CM000681.1:g.18893856C>G GRCh37
NC_000019.8:g.18754856C>G NCBI36
NG_007070.1:g.13259G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000222271.7:c.2227+8G>C MANE Select ENSP00000222271.2:n.2227+8G>C
ENST00000222271.6:c.2227+8G>C ENSP00000222271.2:n.2227+8G>C
ENST00000425807.1:c.2068+8G>C ENSP00000403792.1:n.2068+8G>C
ENST00000542601.6:c.2128+8G>C ENSP00000439156.2:n.2128+8G>C
NM_000095.2:c.2227+8G>C NP_000086.2:n.2227+8G>C
NM_000095.3:c.2227+8G>C MANE Select NP_000086.2:n.2227+8G>C
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