Canonical Allele Identifier: CA127156

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 17364
• ClinVar RCV Id: RCV000018908
• dbSNP Id: rs121912872
• MyVariant Identifiers: chr12:g.48388223C>T (hg19) ; chr12:g.47994440C>T (hg38)
• PubMed: PMID:732195 ; PMID:8317498 ; PMID:16752401

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47994440C>T , CM000674.2:g.47994440C>T	GRCh38
NC_000012.11:g.48388223C>T , CM000674.1:g.48388223C>T	GRCh37
NC_000012.10:g.46674490C>T	NCBI36
NG_008072.1:g.15063G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.593G>A	ENSP00000338213.6:p.Gly198Asp
ENST00000380518.8:c.800G>A MANE Select	ENSP00000369889.3:p.Gly267Asp
ENST00000337299.6:c.593G>A	ENSP00000338213.6:p.Gly198Asp
ENST00000380518.7:c.800G>A	ENSP00000369889.3:p.Gly267Asp
NM_001844.4:c.800G>A	NP_001835.3:p.Gly267Asp
NM_033150.2:c.593G>A	NP_149162.2:p.Gly198Asp
XM_006719242.2:c.944G>A	XP_006719305.2:p.Gly315Asp
XM_011537928.1:c.944G>A	XP_011536230.1:p.Gly315Asp
XM_011537929.1:c.944G>A	XP_011536231.1:p.Gly315Asp
XM_011537930.1:c.944G>A	XP_011536232.1:p.Gly315Asp
XM_011537931.1:c.944G>A	XP_011536233.1:p.Gly315Asp
XM_011537932.1:c.944G>A	XP_011536234.1:p.Gly315Asp
XM_011537933.1:c.944G>A	XP_011536235.1:p.Gly315Asp
XM_011537934.1:c.941G>A	XP_011536236.1:p.Gly314Asp
XM_017018828.1:c.944G>A	XP_016874317.1:p.Gly315Asp
XM_017018829.1:c.941G>A	XP_016874318.1:p.Gly314Asp
XM_017018830.1:c.734G>A	XP_016874319.1:p.Gly245Asp
XM_017018831.2:c.254G>A	XP_016874320.1:p.Gly85Asp
NM_001844.5:c.800G>A MANE Select	NP_001835.3:p.Gly267Asp
NM_033150.3:c.593G>A	NP_149162.2:p.Gly198Asp