Canonical Allele Identifier: CA236495848
Gene: COL2A1 HGNC NCBI

Linked Data

dbSNP Id: rs1635530
MyVariant Identifiers: chr12:g.48395042G>C (hg19) chr12:g.48001259G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48001259G>C , CM000674.2:g.48001259G>C GRCh38
NC_000012.11:g.48395042G>C , CM000674.1:g.48395042G>C GRCh37
NC_000012.10:g.46681309G>C NCBI36
NG_008072.1:g.8244C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000337299.7:c.86-2828C>G ENSP00000338213.6:n.86-2828C>G
ENST00000380518.8:c.86-1134C>G MANE Select ENSP00000369889.3:n.86-1134C>G
ENST00000490609.2:n.319-1134C>G
ENST00000337299.6:c.86-2828C>G ENSP00000338213.6:n.86-2828C>G
ENST00000380518.7:c.86-1134C>G ENSP00000369889.3:n.86-1134C>G
ENST00000474996.6:n.214-165C>G
ENST00000490609.1:n.251-1134C>G
NM_001844.4:c.86-1134C>G NP_001835.3:n.86-1134C>G
NM_033150.2:c.86-2828C>G NP_149162.2:n.86-2828C>G
XM_006719242.2:c.227-1134C>G XP_006719305.2:n.227-1134C>G
XM_011537928.1:c.227-1134C>G XP_011536230.1:n.227-1134C>G
XM_011537929.1:c.227-1134C>G XP_011536231.1:n.227-1134C>G
XM_011537930.1:c.227-1134C>G XP_011536232.1:n.227-1134C>G
XM_011537931.1:c.227-1134C>G XP_011536233.1:n.227-1134C>G
XM_011537932.1:c.227-1134C>G XP_011536234.1:n.227-1134C>G
XM_011537933.1:c.227-1134C>G XP_011536235.1:n.227-1134C>G
XM_011537934.1:c.227-1134C>G XP_011536236.1:n.227-1134C>G
XM_017018828.1:c.227-1134C>G XP_016874317.1:n.227-1134C>G
XM_017018829.1:c.227-1134C>G XP_016874318.1:n.227-1134C>G
XM_017018830.1:c.227-2828C>G XP_016874319.1:n.227-2828C>G
XM_017018831.2:c.-736C>G XP_016874320.1:n.-736C>G
NM_001844.5:c.86-1134C>G MANE Select NP_001835.3:n.86-1134C>G
NM_033150.3:c.86-2828C>G NP_149162.2:n.86-2828C>G
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