Canonical Allele Identifier: CA6534868

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 561288
• ClinVar RCV Id: RCV001811438
• dbSNP Id: rs376722458
• ExAC: 12:48371398 G / A
• gnomAD v2: 12-48371398-G-A
• gnomAD v3: 12-47977615-G-A
• gnomAD v4: 12-47977615-G-A
• MyVariant Identifiers: chr12:g.48371398G>A (hg19) ; chr12:g.47977615G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977615G>A , CM000674.2:g.47977615G>A	GRCh38
NC_000012.11:g.48371398G>A , CM000674.1:g.48371398G>A	GRCh37
NC_000012.10:g.46657665G>A	NCBI36
NG_008072.1:g.31888C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.2943C>T	ENSP00000338213.6:p.Gly981=
ENST00000380518.8:c.3150C>T MANE Select	ENSP00000369889.3:p.Gly1050=
ENST00000337299.6:c.2943C>T	ENSP00000338213.6:p.Gly981=
ENST00000380518.7:c.3150C>T	ENSP00000369889.3:p.Gly1050=
ENST00000493991.5:n.2236C>T
NM_001844.4:c.3150C>T	NP_001835.3:p.Gly1050=
NM_033150.2:c.2943C>T	NP_149162.2:p.Gly981=
XM_006719242.2:c.3294C>T	XP_006719305.2:p.Gly1098=
XM_011537928.1:c.3294C>T	XP_011536230.1:p.Gly1098=
XM_011537929.1:c.3294C>T	XP_011536231.1:p.Gly1098=
XM_011537930.1:c.3294C>T	XP_011536232.1:p.Gly1098=
XM_011537931.1:c.3294C>T	XP_011536233.1:p.Gly1098=
XM_011537932.1:c.3294C>T	XP_011536234.1:p.Gly1098=
XM_011537933.1:c.3294C>T	XP_011536235.1:p.Gly1098=
XM_011537934.1:c.3291C>T	XP_011536236.1:p.Gly1097=
XM_011537935.1:c.2238C>T	XP_011536237.1:p.Gly746=
XM_017018828.1:c.3294C>T	XP_016874317.1:p.Gly1098=
XM_017018829.1:c.3291C>T	XP_016874318.1:p.Gly1097=
XM_017018830.1:c.3084C>T	XP_016874319.1:p.Gly1028=
XM_017018831.2:c.2604C>T	XP_016874320.1:p.Gly868=
NM_001844.5:c.3150C>T MANE Select	NP_001835.3:p.Gly1050=
NM_033150.3:c.2943C>T	NP_149162.2:p.Gly981=