Canonical Allele Identifier: CA384555299

Gene: COL2A1

Linked Data

• MyVariant Identifiers: chr12:g.48383032G>C (hg19) ; chr12:g.47989249G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47989249G>C , CM000674.2:g.47989249G>C	GRCh38
NC_000012.11:g.48383032G>C , CM000674.1:g.48383032G>C	GRCh37
NC_000012.10:g.46669299G>C	NCBI36
NG_008072.1:g.20254C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.894C>G	ENSP00000338213.6:p.Phe298Leu
ENST00000380518.8:c.1101C>G MANE Select	ENSP00000369889.3:p.Phe367Leu
ENST00000337299.6:c.894C>G	ENSP00000338213.6:p.Phe298Leu
ENST00000380518.7:c.1101C>G	ENSP00000369889.3:p.Phe367Leu
NM_001844.4:c.1101C>G	NP_001835.3:p.Phe367Leu
NM_033150.2:c.894C>G	NP_149162.2:p.Phe298Leu
XM_006719242.2:c.1245C>G	XP_006719305.2:p.Phe415Leu
XM_011537928.1:c.1245C>G	XP_011536230.1:p.Phe415Leu
XM_011537929.1:c.1245C>G	XP_011536231.1:p.Phe415Leu
XM_011537930.1:c.1245C>G	XP_011536232.1:p.Phe415Leu
XM_011537931.1:c.1245C>G	XP_011536233.1:p.Phe415Leu
XM_011537932.1:c.1245C>G	XP_011536234.1:p.Phe415Leu
XM_011537933.1:c.1245C>G	XP_011536235.1:p.Phe415Leu
XM_011537934.1:c.1242C>G	XP_011536236.1:p.Phe414Leu
XM_017018828.1:c.1245C>G	XP_016874317.1:p.Phe415Leu
XM_017018829.1:c.1242C>G	XP_016874318.1:p.Phe414Leu
XM_017018830.1:c.1035C>G	XP_016874319.1:p.Phe345Leu
XM_017018831.2:c.555C>G	XP_016874320.1:p.Phe185Leu
NM_001844.5:c.1101C>G MANE Select	NP_001835.3:p.Phe367Leu
NM_033150.3:c.894C>G	NP_149162.2:p.Phe298Leu