Canonical Allele Identifier: CA6534477

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 516324
• ClinVar RCV Id: RCV000604855 ; RCV000894564 ; RCV001112537 ; RCV001112538 ; RCV002279438 ; RCV002491292
• dbSNP Id: rs200214562
• ExAC: 12:48367310 A / G
• gnomAD v2: 12-48367310-A-G
• gnomAD v3: 12-47973527-A-G
• gnomAD v4: 12-47973527-A-G
• MyVariant Identifiers: chr12:g.48367310A>G (hg19) ; chr12:g.47973527A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47973527A>G , CM000674.2:g.47973527A>G	GRCh38
NC_000012.11:g.48367310A>G , CM000674.1:g.48367310A>G	GRCh37
NC_000012.10:g.46653577A>G	NCBI36
NG_008072.1:g.35976T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.4137T>C	ENSP00000338213.6:p.Thr1379=
ENST00000380518.8:c.4344T>C MANE Select	ENSP00000369889.3:p.Thr1448=
ENST00000337299.6:c.4137T>C	ENSP00000338213.6:p.Thr1379=
ENST00000380518.7:c.4344T>C	ENSP00000369889.3:p.Thr1448=
ENST00000493991.5:n.3430T>C
NM_001844.4:c.4344T>C	NP_001835.3:p.Thr1448=
NM_033150.2:c.4137T>C	NP_149162.2:p.Thr1379=
XM_006719242.2:c.4488T>C	XP_006719305.2:p.Thr1496=
XM_011537928.1:c.4488T>C	XP_011536230.1:p.Thr1496=
XM_011537929.1:c.4488T>C	XP_011536231.1:p.Thr1496=
XM_011537930.1:c.4488T>C	XP_011536232.1:p.Thr1496=
XM_011537931.1:c.4488T>C	XP_011536233.1:p.Thr1496=
XM_011537932.1:c.4488T>C	XP_011536234.1:p.Thr1496=
XM_011537933.1:c.4488T>C	XP_011536235.1:p.Thr1496=
XM_011537934.1:c.4485T>C	XP_011536236.1:p.Thr1495=
XM_011537935.1:c.3432T>C	XP_011536237.1:p.Thr1144=
XM_017018828.1:c.4488T>C	XP_016874317.1:p.Thr1496=
XM_017018829.1:c.4485T>C	XP_016874318.1:p.Thr1495=
XM_017018830.1:c.4278T>C	XP_016874319.1:p.Thr1426=
XM_017018831.2:c.3798T>C	XP_016874320.1:p.Thr1266=
NM_001844.5:c.4344T>C MANE Select	NP_001835.3:p.Thr1448=
NM_033150.3:c.4137T>C	NP_149162.2:p.Thr1379=