Canonical Allele Identifier: CA384555297

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 2825931
• ClinVar RCV Id: RCV003681189
• MyVariant Identifiers: chr12:g.48383031G>T (hg19) ; chr12:g.47989248G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47989248G>T , CM000674.2:g.47989248G>T	GRCh38
NC_000012.11:g.48383031G>T , CM000674.1:g.48383031G>T	GRCh37
NC_000012.10:g.46669298G>T	NCBI36
NG_008072.1:g.20255C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.895C>A	ENSP00000338213.6:p.Pro299Thr
ENST00000380518.8:c.1102C>A MANE Select	ENSP00000369889.3:p.Pro368Thr
ENST00000337299.6:c.895C>A	ENSP00000338213.6:p.Pro299Thr
ENST00000380518.7:c.1102C>A	ENSP00000369889.3:p.Pro368Thr
NM_001844.4:c.1102C>A	NP_001835.3:p.Pro368Thr
NM_033150.2:c.895C>A	NP_149162.2:p.Pro299Thr
XM_006719242.2:c.1246C>A	XP_006719305.2:p.Pro416Thr
XM_011537928.1:c.1246C>A	XP_011536230.1:p.Pro416Thr
XM_011537929.1:c.1246C>A	XP_011536231.1:p.Pro416Thr
XM_011537930.1:c.1246C>A	XP_011536232.1:p.Pro416Thr
XM_011537931.1:c.1246C>A	XP_011536233.1:p.Pro416Thr
XM_011537932.1:c.1246C>A	XP_011536234.1:p.Pro416Thr
XM_011537933.1:c.1246C>A	XP_011536235.1:p.Pro416Thr
XM_011537934.1:c.1243C>A	XP_011536236.1:p.Pro415Thr
XM_017018828.1:c.1246C>A	XP_016874317.1:p.Pro416Thr
XM_017018829.1:c.1243C>A	XP_016874318.1:p.Pro415Thr
XM_017018830.1:c.1036C>A	XP_016874319.1:p.Pro346Thr
XM_017018831.2:c.556C>A	XP_016874320.1:p.Pro186Thr
NM_001844.5:c.1102C>A MANE Select	NP_001835.3:p.Pro368Thr
NM_033150.3:c.895C>A	NP_149162.2:p.Pro299Thr