Canonical Allele Identifier: CA384555504
Gene: COL2A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.48383590T>G (hg19) chr12:g.47989807T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47989807T>G , CM000674.2:g.47989807T>G GRCh38
NC_000012.11:g.48383590T>G , CM000674.1:g.48383590T>G GRCh37
NC_000012.10:g.46669857T>G NCBI36
NG_008072.1:g.19696A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000337299.7:c.817-2A>C ENSP00000338213.6:n.817-2A>C
ENST00000380518.8:c.1024-2A>C MANE Select ENSP00000369889.3:n.1024-2A>C
ENST00000337299.6:c.817-2A>C ENSP00000338213.6:n.817-2A>C
ENST00000380518.7:c.1024-2A>C ENSP00000369889.3:n.1024-2A>C
NM_001844.4:c.1024-2A>C NP_001835.3:n.1024-2A>C
NM_033150.2:c.817-2A>C NP_149162.2:n.817-2A>C
XM_006719242.2:c.1168-2A>C XP_006719305.2:n.1168-2A>C
XM_011537928.1:c.1168-2A>C XP_011536230.1:n.1168-2A>C
XM_011537929.1:c.1168-2A>C XP_011536231.1:n.1168-2A>C
XM_011537930.1:c.1168-2A>C XP_011536232.1:n.1168-2A>C
XM_011537931.1:c.1168-2A>C XP_011536233.1:n.1168-2A>C
XM_011537932.1:c.1168-2A>C XP_011536234.1:n.1168-2A>C
XM_011537933.1:c.1168-2A>C XP_011536235.1:n.1168-2A>C
XM_011537934.1:c.1165-2A>C XP_011536236.1:n.1165-2A>C
XM_017018828.1:c.1168-2A>C XP_016874317.1:n.1168-2A>C
XM_017018829.1:c.1165-2A>C XP_016874318.1:n.1165-2A>C
XM_017018830.1:c.958-2A>C XP_016874319.1:n.958-2A>C
XM_017018831.2:c.478-2A>C XP_016874320.1:n.478-2A>C
NM_001844.5:c.1024-2A>C MANE Select NP_001835.3:n.1024-2A>C
NM_033150.3:c.817-2A>C NP_149162.2:n.817-2A>C
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