Canonical Allele Identifier: CA6535523

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 424568
• ClinVar RCV Id: RCV000723634 ; RCV001110199 ; RCV001110200 ; RCV001375461 ; RCV004535536
• dbSNP Id: rs140985224
• ExAC: 12:48380926 G / A
• gnomAD v2: 12-48380926-G-A
• gnomAD v3: 12-47987143-G-A
• gnomAD v4: 12-47987143-G-A
• MyVariant Identifiers: chr12:g.48380926G>A (hg19) ; chr12:g.47987143G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47987143G>A , CM000674.2:g.47987143G>A	GRCh38
NC_000012.11:g.48380926G>A , CM000674.1:g.48380926G>A	GRCh37
NC_000012.10:g.46667193G>A	NCBI36
NG_008072.1:g.22360C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.1093C>T	ENSP00000338213.6:p.Pro365Ser
ENST00000380518.8:c.1300C>T MANE Select	ENSP00000369889.3:p.Pro434Ser
ENST00000337299.6:c.1093C>T	ENSP00000338213.6:p.Pro365Ser
ENST00000380518.7:c.1300C>T	ENSP00000369889.3:p.Pro434Ser
ENST00000493991.5:n.224C>T
NM_001844.4:c.1300C>T	NP_001835.3:p.Pro434Ser
NM_033150.2:c.1093C>T	NP_149162.2:p.Pro365Ser
XM_006719242.2:c.1444C>T	XP_006719305.2:p.Pro482Ser
XM_011537928.1:c.1444C>T	XP_011536230.1:p.Pro482Ser
XM_011537929.1:c.1444C>T	XP_011536231.1:p.Pro482Ser
XM_011537930.1:c.1444C>T	XP_011536232.1:p.Pro482Ser
XM_011537931.1:c.1444C>T	XP_011536233.1:p.Pro482Ser
XM_011537932.1:c.1444C>T	XP_011536234.1:p.Pro482Ser
XM_011537933.1:c.1444C>T	XP_011536235.1:p.Pro482Ser
XM_011537934.1:c.1441C>T	XP_011536236.1:p.Pro481Ser
XM_011537935.1:c.388C>T	XP_011536237.1:p.Pro130Ser
XM_017018828.1:c.1444C>T	XP_016874317.1:p.Pro482Ser
XM_017018829.1:c.1441C>T	XP_016874318.1:p.Pro481Ser
XM_017018830.1:c.1234C>T	XP_016874319.1:p.Pro412Ser
XM_017018831.2:c.754C>T	XP_016874320.1:p.Pro252Ser
NM_001844.5:c.1300C>T MANE Select	NP_001835.3:p.Pro434Ser
NM_033150.3:c.1093C>T	NP_149162.2:p.Pro365Ser