Canonical Allele Identifier: CA384547035

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 439510
• ClinVar RCV Id: RCV000506248 ; RCV003988849
• dbSNP Id: rs1555166537
• MyVariant Identifiers: chr12:g.48376683C>T (hg19) ; chr12:g.47982900C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47982900C>T , CM000674.2:g.47982900C>T	GRCh38
NC_000012.11:g.48376683C>T , CM000674.1:g.48376683C>T	GRCh37
NC_000012.10:g.46662950C>T	NCBI36
NG_008072.1:g.26603G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.1934G>A	ENSP00000338213.6:p.Gly645Asp
ENST00000380518.8:c.2141G>A MANE Select	ENSP00000369889.3:p.Gly714Asp
ENST00000337299.6:c.1934G>A	ENSP00000338213.6:p.Gly645Asp
ENST00000380518.7:c.2141G>A	ENSP00000369889.3:p.Gly714Asp
ENST00000483376.1:n.319G>A
ENST00000493991.5:n.1065G>A
NM_001844.4:c.2141G>A	NP_001835.3:p.Gly714Asp
NM_033150.2:c.1934G>A	NP_149162.2:p.Gly645Asp
XM_006719242.2:c.2285G>A	XP_006719305.2:p.Gly762Asp
XM_011537928.1:c.2285G>A	XP_011536230.1:p.Gly762Asp
XM_011537929.1:c.2285G>A	XP_011536231.1:p.Gly762Asp
XM_011537930.1:c.2285G>A	XP_011536232.1:p.Gly762Asp
XM_011537931.1:c.2285G>A	XP_011536233.1:p.Gly762Asp
XM_011537932.1:c.2285G>A	XP_011536234.1:p.Gly762Asp
XM_011537933.1:c.2285G>A	XP_011536235.1:p.Gly762Asp
XM_011537934.1:c.2282G>A	XP_011536236.1:p.Gly761Asp
XM_011537935.1:c.1229G>A	XP_011536237.1:p.Gly410Asp
XM_017018828.1:c.2285G>A	XP_016874317.1:p.Gly762Asp
XM_017018829.1:c.2282G>A	XP_016874318.1:p.Gly761Asp
XM_017018830.1:c.2075G>A	XP_016874319.1:p.Gly692Asp
XM_017018831.2:c.1595G>A	XP_016874320.1:p.Gly532Asp
NM_001844.5:c.2141G>A MANE Select	NP_001835.3:p.Gly714Asp
NM_033150.3:c.1934G>A	NP_149162.2:p.Gly645Asp