Canonical Allele Identifier: CA16606628
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 392715
ClinVar RCV Id: RCV000430070
dbSNP Id: rs1057524602
MyVariant Identifiers: chr12:g.48377886C>A (hg19) chr12:g.47984103C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47984103C>A , CM000674.2:g.47984103C>A GRCh38
NC_000012.11:g.48377886C>A , CM000674.1:g.48377886C>A GRCh37
NC_000012.10:g.46664153C>A NCBI36
NG_008072.1:g.25400G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000337299.7:c.1718G>T ENSP00000338213.6:p.Gly573Val
ENST00000380518.8:c.1925G>T MANE Select ENSP00000369889.3:p.Gly642Val
ENST00000337299.6:c.1718G>T ENSP00000338213.6:p.Gly573Val
ENST00000380518.7:c.1925G>T ENSP00000369889.3:p.Gly642Val
ENST00000493991.5:n.849G>T
NM_001844.4:c.1925G>T NP_001835.3:p.Gly642Val
NM_033150.2:c.1718G>T NP_149162.2:p.Gly573Val
XM_006719242.2:c.2069G>T XP_006719305.2:p.Gly690Val
XM_011537928.1:c.2069G>T XP_011536230.1:p.Gly690Val
XM_011537929.1:c.2069G>T XP_011536231.1:p.Gly690Val
XM_011537930.1:c.2069G>T XP_011536232.1:p.Gly690Val
XM_011537931.1:c.2069G>T XP_011536233.1:p.Gly690Val
XM_011537932.1:c.2069G>T XP_011536234.1:p.Gly690Val
XM_011537933.1:c.2069G>T XP_011536235.1:p.Gly690Val
XM_011537934.1:c.2066G>T XP_011536236.1:p.Gly689Val
XM_011537935.1:c.1013G>T XP_011536237.1:p.Gly338Val
XM_017018828.1:c.2069G>T XP_016874317.1:p.Gly690Val
XM_017018829.1:c.2066G>T XP_016874318.1:p.Gly689Val
XM_017018830.1:c.1859G>T XP_016874319.1:p.Gly620Val
XM_017018831.2:c.1379G>T XP_016874320.1:p.Gly460Val
NM_001844.5:c.1925G>T MANE Select NP_001835.3:p.Gly642Val
NM_033150.3:c.1718G>T NP_149162.2:p.Gly573Val
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