Canonical Allele Identifier: CA6536082

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 975372
• ClinVar RCV Id: RCV001251954 ; RCV001309564
• dbSNP Id: rs370821294
• ExAC: 12:48393836 C / T
• gnomAD v2: 12-48393836-C-T
• gnomAD v3: 12-48000053-C-T
• gnomAD v4: 12-48000053-C-T
• MyVariant Identifiers: chr12:g.48393836C>T (hg19) ; chr12:g.48000053C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.48000053C>T , CM000674.2:g.48000053C>T	GRCh38
NC_000012.11:g.48393836C>T , CM000674.1:g.48393836C>T	GRCh37
NC_000012.10:g.46680103C>T	NCBI36
NG_008072.1:g.9450G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.86-1622G>A	ENSP00000338213.6:n.86-1622G>A
ENST00000380518.8:c.158G>A MANE Select	ENSP00000369889.3:p.Arg53Gln
ENST00000490609.2:n.391G>A
ENST00000337299.6:c.86-1622G>A	ENSP00000338213.6:n.86-1622G>A
ENST00000380518.7:c.158G>A	ENSP00000369889.3:p.Arg53Gln
ENST00000474996.6:n.396G>A
ENST00000490609.1:n.323G>A
NM_001844.4:c.158G>A	NP_001835.3:p.Arg53Gln
NM_033150.2:c.86-1622G>A	NP_149162.2:n.86-1622G>A
XM_006719242.2:c.299G>A	XP_006719305.2:p.Arg100Gln
XM_011537928.1:c.299G>A	XP_011536230.1:p.Arg100Gln
XM_011537929.1:c.299G>A	XP_011536231.1:p.Arg100Gln
XM_011537930.1:c.299G>A	XP_011536232.1:p.Arg100Gln
XM_011537931.1:c.299G>A	XP_011536233.1:p.Arg100Gln
XM_011537932.1:c.299G>A	XP_011536234.1:p.Arg100Gln
XM_011537933.1:c.299G>A	XP_011536235.1:p.Arg100Gln
XM_011537934.1:c.299G>A	XP_011536236.1:p.Arg100Gln
XM_017018828.1:c.299G>A	XP_016874317.1:p.Arg100Gln
XM_017018829.1:c.299G>A	XP_016874318.1:p.Arg100Gln
XM_017018830.1:c.227-1622G>A	XP_016874319.1:n.227-1622G>A
XM_017018831.2:c.-389G>A	XP_016874320.1:n.-389G>A
NM_001844.5:c.158G>A MANE Select	NP_001835.3:p.Arg53Gln
NM_033150.3:c.86-1622G>A	NP_149162.2:n.86-1622G>A