Canonical Allele Identifier: CA3054202068

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47981784_47981785delinsTG , CM000674.2:g.47981784_47981785delinsTG	GRCh38
NC_000012.11:g.48375567_48375568delinsTG , CM000674.1:g.48375567_48375568delinsTG	GRCh37
NC_000012.10:g.46661834_46661835delinsTG	NCBI36
NG_008072.1:g.27718_27719delinsCA

Transcript Alleles

HGVS	Amino-acid Change
NM_001844.5:c.2400_2401delinsCA MANE Select	NP_001835.3:p.Gly801Ser
ENST00000380518.8:c.2400_2401delinsCA MANE Select	ENSP00000369889.3:p.Gly801Ser
NM_001844.4:c.2400_2401delinsCA	NP_001835.3:p.Gly801Ser
NM_033150.2:c.2193_2194delinsCA	NP_149162.2:p.Gly732Ser
NM_033150.3:c.2193_2194delinsCA	NP_149162.2:p.Gly732Ser
ENST00000337299.6:c.2193_2194delinsCA	ENSP00000338213.6:p.Gly732Ser
ENST00000337299.7:c.2193_2194delinsCA	ENSP00000338213.6:p.Gly732Ser
ENST00000380518.7:c.2400_2401delinsCA	ENSP00000369889.3:p.Gly801Ser
ENST00000483376.1:n.578_579delinsCA
ENST00000493991.5:n.1486_1487delinsCA
XM_006719242.2:c.2544_2545delinsCA	XP_006719305.2:p.Gly849Ser
XM_011537928.1:c.2544_2545delinsCA	XP_011536230.1:p.Gly849Ser
XM_011537929.1:c.2544_2545delinsCA	XP_011536231.1:p.Gly849Ser
XM_011537930.1:c.2544_2545delinsCA	XP_011536232.1:p.Gly849Ser
XM_011537931.1:c.2544_2545delinsCA	XP_011536233.1:p.Gly849Ser
XM_011537932.1:c.2544_2545delinsCA	XP_011536234.1:p.Gly849Ser
XM_011537933.1:c.2544_2545delinsCA	XP_011536235.1:p.Gly849Ser
XM_011537934.1:c.2541_2542delinsCA	XP_011536236.1:p.Gly848Ser
XM_011537935.1:c.1488_1489delinsCA	XP_011536237.1:p.Gly497Ser
XM_017018828.1:c.2544_2545delinsCA	XP_016874317.1:p.Gly849Ser
XM_017018829.1:c.2541_2542delinsCA	XP_016874318.1:p.Gly848Ser
XM_017018830.1:c.2334_2335delinsCA	XP_016874319.1:p.Gly779Ser
XM_017018831.2:c.1854_1855delinsCA	XP_016874320.1:p.Gly619Ser
XR_944910.1:n.208+358_208+359delinsTG