Canonical Allele Identifier: CA384540011

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 1446871
• ClinVar RCV Id: RCV001987930
• dbSNP Id: rs2136521102
• gnomAD v4: 12-47977331-T-C
• MyVariant Identifiers: chr12:g.48371114T>C (hg19) ; chr12:g.47977331T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977331T>C , CM000674.2:g.47977331T>C	GRCh38
NC_000012.11:g.48371114T>C , CM000674.1:g.48371114T>C	GRCh37
NC_000012.10:g.46657381T>C	NCBI36
NG_008072.1:g.32172A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3055A>G	ENSP00000338213.6:p.Arg1019Gly
ENST00000380518.8:c.3262A>G MANE Select	ENSP00000369889.3:p.Arg1088Gly
ENST00000337299.6:c.3055A>G	ENSP00000338213.6:p.Arg1019Gly
ENST00000380518.7:c.3262A>G	ENSP00000369889.3:p.Arg1088Gly
ENST00000493991.5:n.2348A>G
ENST00000546974.1:n.115A>G
NM_001844.4:c.3262A>G	NP_001835.3:p.Arg1088Gly
NM_033150.2:c.3055A>G	NP_149162.2:p.Arg1019Gly
XM_006719242.2:c.3406A>G	XP_006719305.2:p.Arg1136Gly
XM_011537928.1:c.3406A>G	XP_011536230.1:p.Arg1136Gly
XM_011537929.1:c.3406A>G	XP_011536231.1:p.Arg1136Gly
XM_011537930.1:c.3406A>G	XP_011536232.1:p.Arg1136Gly
XM_011537931.1:c.3406A>G	XP_011536233.1:p.Arg1136Gly
XM_011537932.1:c.3406A>G	XP_011536234.1:p.Arg1136Gly
XM_011537933.1:c.3406A>G	XP_011536235.1:p.Arg1136Gly
XM_011537934.1:c.3403A>G	XP_011536236.1:p.Arg1135Gly
XM_011537935.1:c.2350A>G	XP_011536237.1:p.Arg784Gly
XM_017018828.1:c.3406A>G	XP_016874317.1:p.Arg1136Gly
XM_017018829.1:c.3403A>G	XP_016874318.1:p.Arg1135Gly
XM_017018830.1:c.3196A>G	XP_016874319.1:p.Arg1066Gly
XM_017018831.2:c.2716A>G	XP_016874320.1:p.Arg906Gly
NM_001844.5:c.3262A>G MANE Select	NP_001835.3:p.Arg1088Gly
NM_033150.3:c.3055A>G	NP_149162.2:p.Arg1019Gly