Canonical Allele Identifier: CA6534678

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 498756
• ClinVar RCV Id: RCV000594099
• dbSNP Id: rs775874428
• ExAC: 12:48369342 C / G
• gnomAD v2: 12-48369342-C-G
• gnomAD v3: 12-47975559-C-G
• gnomAD v4: 12-47975559-C-G
• MyVariant Identifiers: chr12:g.48369342C>G (hg19) ; chr12:g.47975559C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47975559C>G , CM000674.2:g.47975559C>G	GRCh38
NC_000012.11:g.48369342C>G , CM000674.1:g.48369342C>G	GRCh37
NC_000012.10:g.46655609C>G	NCBI36
NG_008072.1:g.33944G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3437G>C	ENSP00000338213.6:p.Gly1146Ala
ENST00000380518.8:c.3644G>C MANE Select	ENSP00000369889.3:p.Gly1215Ala
ENST00000337299.6:c.3437G>C	ENSP00000338213.6:p.Gly1146Ala
ENST00000380518.7:c.3644G>C	ENSP00000369889.3:p.Gly1215Ala
ENST00000493991.5:n.2730G>C
ENST00000546974.1:n.497G>C
NM_001844.4:c.3644G>C	NP_001835.3:p.Gly1215Ala
NM_033150.2:c.3437G>C	NP_149162.2:p.Gly1146Ala
XM_006719242.2:c.3788G>C	XP_006719305.2:p.Gly1263Ala
XM_011537928.1:c.3788G>C	XP_011536230.1:p.Gly1263Ala
XM_011537929.1:c.3788G>C	XP_011536231.1:p.Gly1263Ala
XM_011537930.1:c.3788G>C	XP_011536232.1:p.Gly1263Ala
XM_011537931.1:c.3788G>C	XP_011536233.1:p.Gly1263Ala
XM_011537932.1:c.3788G>C	XP_011536234.1:p.Gly1263Ala
XM_011537933.1:c.3788G>C	XP_011536235.1:p.Gly1263Ala
XM_011537934.1:c.3785G>C	XP_011536236.1:p.Gly1262Ala
XM_011537935.1:c.2732G>C	XP_011536237.1:p.Gly911Ala
XM_017018828.1:c.3788G>C	XP_016874317.1:p.Gly1263Ala
XM_017018829.1:c.3785G>C	XP_016874318.1:p.Gly1262Ala
XM_017018830.1:c.3578G>C	XP_016874319.1:p.Gly1193Ala
XM_017018831.2:c.3098G>C	XP_016874320.1:p.Gly1033Ala
NM_001844.5:c.3644G>C MANE Select	NP_001835.3:p.Gly1215Ala
NM_033150.3:c.3437G>C	NP_149162.2:p.Gly1146Ala