Canonical Allele Identifier: CA384554627
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1072583
ClinVar RCV Id: RCV001385336
dbSNP Id: rs1323542030
MyVariant Identifiers: chr12:g.48381473C>T (hg19) chr12:g.47987690C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47987690C>T , CM000674.2:g.47987690C>T GRCh38
NC_000012.11:g.48381473C>T , CM000674.1:g.48381473C>T GRCh37
NC_000012.10:g.46667740C>T NCBI36
NG_008072.1:g.21813G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000337299.7:c.935G>A ENSP00000338213.6:p.Gly312Asp
ENST00000380518.8:c.1142G>A MANE Select ENSP00000369889.3:p.Gly381Asp
ENST00000337299.6:c.935G>A ENSP00000338213.6:p.Gly312Asp
ENST00000380518.7:c.1142G>A ENSP00000369889.3:p.Gly381Asp
ENST00000493991.5:n.66G>A
NM_001844.4:c.1142G>A NP_001835.3:p.Gly381Asp
NM_033150.2:c.935G>A NP_149162.2:p.Gly312Asp
XM_006719242.2:c.1286G>A XP_006719305.2:p.Gly429Asp
XM_011537928.1:c.1286G>A XP_011536230.1:p.Gly429Asp
XM_011537929.1:c.1286G>A XP_011536231.1:p.Gly429Asp
XM_011537930.1:c.1286G>A XP_011536232.1:p.Gly429Asp
XM_011537931.1:c.1286G>A XP_011536233.1:p.Gly429Asp
XM_011537932.1:c.1286G>A XP_011536234.1:p.Gly429Asp
XM_011537933.1:c.1286G>A XP_011536235.1:p.Gly429Asp
XM_011537934.1:c.1283G>A XP_011536236.1:p.Gly428Asp
XM_011537935.1:c.230G>A XP_011536237.1:p.Gly77Asp
XM_017018828.1:c.1286G>A XP_016874317.1:p.Gly429Asp
XM_017018829.1:c.1283G>A XP_016874318.1:p.Gly428Asp
XM_017018830.1:c.1076G>A XP_016874319.1:p.Gly359Asp
XM_017018831.2:c.596G>A XP_016874320.1:p.Gly199Asp
NM_001844.5:c.1142G>A MANE Select NP_001835.3:p.Gly381Asp
NM_033150.3:c.935G>A NP_149162.2:p.Gly312Asp
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