Canonical Allele Identifier: CA384547258

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 449397
• ClinVar RCV Id: RCV000522045 ; RCV000988825
• dbSNP Id: rs1555166555
• MyVariant Identifiers: chr12:g.48376723G>A (hg19) ; chr12:g.47982940G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47982940G>A , CM000674.2:g.47982940G>A	GRCh38
NC_000012.11:g.48376723G>A , CM000674.1:g.48376723G>A	GRCh37
NC_000012.10:g.46662990G>A	NCBI36
NG_008072.1:g.26563C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.1894C>T	ENSP00000338213.6:p.Arg632Ter
ENST00000380518.8:c.2101C>T MANE Select	ENSP00000369889.3:p.Arg701Ter
ENST00000337299.6:c.1894C>T	ENSP00000338213.6:p.Arg632Ter
ENST00000380518.7:c.2101C>T	ENSP00000369889.3:p.Arg701Ter
ENST00000483376.1:n.279C>T
ENST00000493991.5:n.1025C>T
NM_001844.4:c.2101C>T	NP_001835.3:p.Arg701Ter
NM_033150.2:c.1894C>T	NP_149162.2:p.Arg632Ter
XM_006719242.2:c.2245C>T	XP_006719305.2:p.Arg749Ter
XM_011537928.1:c.2245C>T	XP_011536230.1:p.Arg749Ter
XM_011537929.1:c.2245C>T	XP_011536231.1:p.Arg749Ter
XM_011537930.1:c.2245C>T	XP_011536232.1:p.Arg749Ter
XM_011537931.1:c.2245C>T	XP_011536233.1:p.Arg749Ter
XM_011537932.1:c.2245C>T	XP_011536234.1:p.Arg749Ter
XM_011537933.1:c.2245C>T	XP_011536235.1:p.Arg749Ter
XM_011537934.1:c.2242C>T	XP_011536236.1:p.Arg748Ter
XM_011537935.1:c.1189C>T	XP_011536237.1:p.Arg397Ter
XM_017018828.1:c.2245C>T	XP_016874317.1:p.Arg749Ter
XM_017018829.1:c.2242C>T	XP_016874318.1:p.Arg748Ter
XM_017018830.1:c.2035C>T	XP_016874319.1:p.Arg679Ter
XM_017018831.2:c.1555C>T	XP_016874320.1:p.Arg519Ter
NM_001844.5:c.2101C>T MANE Select	NP_001835.3:p.Arg701Ter
NM_033150.3:c.1894C>T	NP_149162.2:p.Arg632Ter