Canonical Allele Identifier: CA384523913

Gene: COL2A1

Linked Data

• MyVariant Identifiers: chr12:g.48389683C>G (hg19) ; chr12:g.47995900C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47995900C>G , CM000674.2:g.47995900C>G	GRCh38
NC_000012.11:g.48389683C>G , CM000674.1:g.48389683C>G	GRCh37
NC_000012.10:g.46675950C>G	NCBI36
NG_008072.1:g.13603G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.422G>C	ENSP00000338213.6:p.Gly141Ala
ENST00000380518.8:c.629G>C MANE Select	ENSP00000369889.3:p.Gly210Ala
ENST00000337299.6:c.422G>C	ENSP00000338213.6:p.Gly141Ala
ENST00000380518.7:c.629G>C	ENSP00000369889.3:p.Gly210Ala
NM_001844.4:c.629G>C	NP_001835.3:p.Gly210Ala
NM_033150.2:c.422G>C	NP_149162.2:p.Gly141Ala
XM_006719242.2:c.773G>C	XP_006719305.2:p.Gly258Ala
XM_011537928.1:c.773G>C	XP_011536230.1:p.Gly258Ala
XM_011537929.1:c.773G>C	XP_011536231.1:p.Gly258Ala
XM_011537930.1:c.773G>C	XP_011536232.1:p.Gly258Ala
XM_011537931.1:c.773G>C	XP_011536233.1:p.Gly258Ala
XM_011537932.1:c.773G>C	XP_011536234.1:p.Gly258Ala
XM_011537933.1:c.773G>C	XP_011536235.1:p.Gly258Ala
XM_011537934.1:c.770G>C	XP_011536236.1:p.Gly257Ala
XM_017018828.1:c.773G>C	XP_016874317.1:p.Gly258Ala
XM_017018829.1:c.770G>C	XP_016874318.1:p.Gly257Ala
XM_017018830.1:c.563G>C	XP_016874319.1:p.Gly188Ala
XM_017018831.2:c.83G>C	XP_016874320.1:p.Gly28Ala
NM_001844.5:c.629G>C MANE Select	NP_001835.3:p.Gly210Ala
NM_033150.3:c.422G>C	NP_149162.2:p.Gly141Ala