Canonical Allele Identifier: CA16619524
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 423019
ClinVar RCV Id: RCV000478499
dbSNP Id: rs1064796170
MyVariant Identifiers: chr12:g.48368021_48368023del (hg19) chr12:g.47974238_47974240del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47974240_47974242del , CM000674.2:g.47974240_47974242del GRCh38
NC_000012.11:g.48368023_48368025del , CM000674.1:g.48368023_48368025del GRCh37
NC_000012.10:g.46654290_46654292del NCBI36
NG_008072.1:g.35263_35265del

Transcript Alleles

HGVS Amino-acid change
ENST00000337299.7:c.3959_3961del ENSP00000338213.6:p.Ile1320del
ENST00000380518.8:c.4166_4168del MANE Select ENSP00000369889.3:p.Ile1389del
ENST00000337299.6:c.3959_3961del ENSP00000338213.6:p.Ile1320del
ENST00000380518.7:c.4166_4168del ENSP00000369889.3:p.Ile1389del
ENST00000493991.5:n.3252_3254del
NM_001844.4:c.4166_4168del NP_001835.3:p.Ile1389del
NM_033150.2:c.3959_3961del NP_149162.2:p.Ile1320del
XM_006719242.2:c.4310_4312del XP_006719305.2:p.Ile1437del
XM_011537928.1:c.4310_4312del XP_011536230.1:p.Ile1437del
XM_011537929.1:c.4310_4312del XP_011536231.1:p.Ile1437del
XM_011537930.1:c.4310_4312del XP_011536232.1:p.Ile1437del
XM_011537931.1:c.4310_4312del XP_011536233.1:p.Ile1437del
XM_011537932.1:c.4310_4312del XP_011536234.1:p.Ile1437del
XM_011537933.1:c.4310_4312del XP_011536235.1:p.Ile1437del
XM_011537934.1:c.4307_4309del XP_011536236.1:p.Ile1436del
XM_011537935.1:c.3254_3256del XP_011536237.1:p.Ile1085del
XM_017018828.1:c.4310_4312del XP_016874317.1:p.Ile1437del
XM_017018829.1:c.4307_4309del XP_016874318.1:p.Ile1436del
XM_017018830.1:c.4100_4102del XP_016874319.1:p.Ile1367del
XM_017018831.2:c.3620_3622del XP_016874320.1:p.Ile1207del
NM_001844.5:c.4166_4168del MANE Select NP_001835.3:p.Ile1389del
NM_033150.3:c.3959_3961del NP_149162.2:p.Ile1320del
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