Canonical Allele Identifier: CA221742

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 93790
• ClinVar RCV Id: RCV000079727 ; RCV000378068 ; RCV000283561 ; RCV003242977
• dbSNP Id: rs201646745
• ExAC: 12:48368468 C / T
• gnomAD v2: 12-48368468-C-T
• gnomAD v3: 12-47974685-C-T
• gnomAD v4: 12-47974685-C-T
• MyVariant Identifiers: chr12:g.48368468C>T (hg19) ; chr12:g.47974685C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47974685C>T , CM000674.2:g.47974685C>T	GRCh38
NC_000012.11:g.48368468C>T , CM000674.1:g.48368468C>T	GRCh37
NC_000012.10:g.46654735C>T	NCBI36
NG_008072.1:g.34818G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3857G>A	ENSP00000338213.6:p.Gly1286Asp
ENST00000380518.8:c.4064G>A MANE Select	ENSP00000369889.3:p.Gly1355Asp
ENST00000337299.6:c.3857G>A	ENSP00000338213.6:p.Gly1286Asp
ENST00000380518.7:c.4064G>A	ENSP00000369889.3:p.Gly1355Asp
ENST00000493991.5:n.3150G>A
NM_001844.4:c.4064G>A	NP_001835.3:p.Gly1355Asp
NM_033150.2:c.3857G>A	NP_149162.2:p.Gly1286Asp
XM_006719242.2:c.4208G>A	XP_006719305.2:p.Gly1403Asp
XM_011537928.1:c.4208G>A	XP_011536230.1:p.Gly1403Asp
XM_011537929.1:c.4208G>A	XP_011536231.1:p.Gly1403Asp
XM_011537930.1:c.4208G>A	XP_011536232.1:p.Gly1403Asp
XM_011537931.1:c.4208G>A	XP_011536233.1:p.Gly1403Asp
XM_011537932.1:c.4208G>A	XP_011536234.1:p.Gly1403Asp
XM_011537933.1:c.4208G>A	XP_011536235.1:p.Gly1403Asp
XM_011537934.1:c.4205G>A	XP_011536236.1:p.Gly1402Asp
XM_011537935.1:c.3152G>A	XP_011536237.1:p.Gly1051Asp
XM_017018828.1:c.4208G>A	XP_016874317.1:p.Gly1403Asp
XM_017018829.1:c.4205G>A	XP_016874318.1:p.Gly1402Asp
XM_017018830.1:c.3998G>A	XP_016874319.1:p.Gly1333Asp
XM_017018831.2:c.3518G>A	XP_016874320.1:p.Gly1173Asp
NM_001844.5:c.4064G>A MANE Select	NP_001835.3:p.Gly1355Asp
NM_033150.3:c.3857G>A	NP_149162.2:p.Gly1286Asp