Canonical Allele Identifier: CA250688
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17397
ClinVar RCV Id: RCV001851927 RCV002509166
dbSNP Id: rs121912895
MyVariant Identifiers: chr12:g.48372103T>C (hg19) chr12:g.47978320T>C (hg38)
PubMed: PMID:16088915
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47978320T>C , CM000674.2:g.47978320T>C GRCh38
NC_000012.11:g.48372103T>C , CM000674.1:g.48372103T>C GRCh37
NC_000012.10:g.46658370T>C NCBI36
NG_008072.1:g.31183A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000337299.7:c.2767A>G ENSP00000338213.6:p.Arg923Gly
ENST00000380518.8:c.2974A>G MANE Select ENSP00000369889.3:p.Arg992Gly
ENST00000337299.6:c.2767A>G ENSP00000338213.6:p.Arg923Gly
ENST00000380518.7:c.2974A>G ENSP00000369889.3:p.Arg992Gly
ENST00000493991.5:n.2060A>G
NM_001844.4:c.2974A>G NP_001835.3:p.Arg992Gly
NM_033150.2:c.2767A>G NP_149162.2:p.Arg923Gly
XM_006719242.2:c.3118A>G XP_006719305.2:p.Arg1040Gly
XM_011537928.1:c.3118A>G XP_011536230.1:p.Arg1040Gly
XM_011537929.1:c.3118A>G XP_011536231.1:p.Arg1040Gly
XM_011537930.1:c.3118A>G XP_011536232.1:p.Arg1040Gly
XM_011537931.1:c.3118A>G XP_011536233.1:p.Arg1040Gly
XM_011537932.1:c.3118A>G XP_011536234.1:p.Arg1040Gly
XM_011537933.1:c.3118A>G XP_011536235.1:p.Arg1040Gly
XM_011537934.1:c.3115A>G XP_011536236.1:p.Arg1039Gly
XM_011537935.1:c.2062A>G XP_011536237.1:p.Arg688Gly
XM_017018828.1:c.3118A>G XP_016874317.1:p.Arg1040Gly
XM_017018829.1:c.3115A>G XP_016874318.1:p.Arg1039Gly
XM_017018830.1:c.2908A>G XP_016874319.1:p.Arg970Gly
XM_017018831.2:c.2428A>G XP_016874320.1:p.Arg810Gly
NM_001844.5:c.2974A>G MANE Select NP_001835.3:p.Arg992Gly
NM_033150.3:c.2767A>G NP_149162.2:p.Arg923Gly
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