Canonical Allele Identifier: CA384523929

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 1705640
• ClinVar RCV Id: RCV002283954 ; RCV003097658
• dbSNP Id: rs2136619088
• gnomAD v4: 12-47995903-C-T
• MyVariant Identifiers: chr12:g.48389686C>T (hg19) ; chr12:g.47995903C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47995903C>T , CM000674.2:g.47995903C>T	GRCh38
NC_000012.11:g.48389686C>T , CM000674.1:g.48389686C>T	GRCh37
NC_000012.10:g.46675953C>T	NCBI36
NG_008072.1:g.13600G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.419G>A	ENSP00000338213.6:p.Arg140Gln
ENST00000380518.8:c.626G>A MANE Select	ENSP00000369889.3:p.Arg209Gln
ENST00000337299.6:c.419G>A	ENSP00000338213.6:p.Arg140Gln
ENST00000380518.7:c.626G>A	ENSP00000369889.3:p.Arg209Gln
NM_001844.4:c.626G>A	NP_001835.3:p.Arg209Gln
NM_033150.2:c.419G>A	NP_149162.2:p.Arg140Gln
XM_006719242.2:c.770G>A	XP_006719305.2:p.Arg257Gln
XM_011537928.1:c.770G>A	XP_011536230.1:p.Arg257Gln
XM_011537929.1:c.770G>A	XP_011536231.1:p.Arg257Gln
XM_011537930.1:c.770G>A	XP_011536232.1:p.Arg257Gln
XM_011537931.1:c.770G>A	XP_011536233.1:p.Arg257Gln
XM_011537932.1:c.770G>A	XP_011536234.1:p.Arg257Gln
XM_011537933.1:c.770G>A	XP_011536235.1:p.Arg257Gln
XM_011537934.1:c.767G>A	XP_011536236.1:p.Arg256Gln
XM_017018828.1:c.770G>A	XP_016874317.1:p.Arg257Gln
XM_017018829.1:c.767G>A	XP_016874318.1:p.Arg256Gln
XM_017018830.1:c.560G>A	XP_016874319.1:p.Arg187Gln
XM_017018831.2:c.80G>A	XP_016874320.1:p.Arg27Gln
NM_001844.5:c.626G>A MANE Select	NP_001835.3:p.Arg209Gln
NM_033150.3:c.419G>A	NP_149162.2:p.Arg140Gln