Canonical Allele Identifier: CA6535166

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 308919
• ClinVar RCV Id: RCV000288414 ; RCV000343300 ; RCV002262963
• dbSNP Id: rs751436440
• ExAC: 12:48376305 C / T
• gnomAD v2: 12-48376305-C-T
• gnomAD v3: 12-47982522-C-T
• gnomAD v4: 12-47982522-C-T
• COSMIC: COSM468400 ; COSM468401
• MyVariant Identifiers: chr12:g.48376305C>T (hg19) ; chr12:g.47982522C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47982522C>T , CM000674.2:g.47982522C>T	GRCh38
NC_000012.11:g.48376305C>T , CM000674.1:g.48376305C>T	GRCh37
NC_000012.10:g.46662572C>T	NCBI36
NG_008072.1:g.26981G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2074G>A	ENSP00000338213.6:p.Ala692Thr
ENST00000380518.8:c.2281G>A MANE Select	ENSP00000369889.3:p.Ala761Thr
ENST00000337299.6:c.2074G>A	ENSP00000338213.6:p.Ala692Thr
ENST00000380518.7:c.2281G>A	ENSP00000369889.3:p.Ala761Thr
ENST00000483376.1:n.459G>A
ENST00000493991.5:n.1205G>A
NM_001844.4:c.2281G>A	NP_001835.3:p.Ala761Thr
NM_033150.2:c.2074G>A	NP_149162.2:p.Ala692Thr
XM_006719242.2:c.2425G>A	XP_006719305.2:p.Ala809Thr
XM_011537928.1:c.2425G>A	XP_011536230.1:p.Ala809Thr
XM_011537929.1:c.2425G>A	XP_011536231.1:p.Ala809Thr
XM_011537930.1:c.2425G>A	XP_011536232.1:p.Ala809Thr
XM_011537931.1:c.2425G>A	XP_011536233.1:p.Ala809Thr
XM_011537932.1:c.2425G>A	XP_011536234.1:p.Ala809Thr
XM_011537933.1:c.2425G>A	XP_011536235.1:p.Ala809Thr
XM_011537934.1:c.2422G>A	XP_011536236.1:p.Ala808Thr
XM_011537935.1:c.1369G>A	XP_011536237.1:p.Ala457Thr
XR_944910.1:n.268+48C>T
XM_017018828.1:c.2425G>A	XP_016874317.1:p.Ala809Thr
XM_017018829.1:c.2422G>A	XP_016874318.1:p.Ala808Thr
XM_017018830.1:c.2215G>A	XP_016874319.1:p.Ala739Thr
XM_017018831.2:c.1735G>A	XP_016874320.1:p.Ala579Thr
NM_001844.5:c.2281G>A MANE Select	NP_001835.3:p.Ala761Thr
NM_033150.3:c.2074G>A	NP_149162.2:p.Ala692Thr