Canonical Allele Identifier: CA2695216294

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47983725_47983726delinsCA , CM000674.2:g.47983725_47983726delinsCA	GRCh38
NC_000012.11:g.48377508_48377509delinsCA , CM000674.1:g.48377508_48377509delinsCA	GRCh37
NC_000012.10:g.46663775_46663776delinsCA	NCBI36
NG_008072.1:g.25777_25778delinsTG

Transcript Alleles

HGVS	Amino-acid Change
NM_001844.5:c.1952_1953delinsTG MANE Select	NP_001835.3:p.Gly651Val
ENST00000380518.8:c.1952_1953delinsTG MANE Select	ENSP00000369889.3:p.Gly651Val
NM_001844.4:c.1952_1953delinsTG	NP_001835.3:p.Gly651Val
NM_033150.2:c.1745_1746delinsTG	NP_149162.2:p.Gly582Val
NM_033150.3:c.1745_1746delinsTG	NP_149162.2:p.Gly582Val
ENST00000337299.6:c.1745_1746delinsTG	ENSP00000338213.6:p.Gly582Val
ENST00000337299.7:c.1745_1746delinsTG	ENSP00000338213.6:p.Gly582Val
ENST00000380518.7:c.1952_1953delinsTG	ENSP00000369889.3:p.Gly651Val
ENST00000483376.1:n.130_131delinsTG
ENST00000493991.5:n.876_877delinsTG
XM_006719242.2:c.2096_2097delinsTG	XP_006719305.2:p.Gly699Val
XM_011537928.1:c.2096_2097delinsTG	XP_011536230.1:p.Gly699Val
XM_011537929.1:c.2096_2097delinsTG	XP_011536231.1:p.Gly699Val
XM_011537930.1:c.2096_2097delinsTG	XP_011536232.1:p.Gly699Val
XM_011537931.1:c.2096_2097delinsTG	XP_011536233.1:p.Gly699Val
XM_011537932.1:c.2096_2097delinsTG	XP_011536234.1:p.Gly699Val
XM_011537933.1:c.2096_2097delinsTG	XP_011536235.1:p.Gly699Val
XM_011537934.1:c.2093_2094delinsTG	XP_011536236.1:p.Gly698Val
XM_011537935.1:c.1040_1041delinsTG	XP_011536237.1:p.Gly347Val
XM_017018828.1:c.2096_2097delinsTG	XP_016874317.1:p.Gly699Val
XM_017018829.1:c.2093_2094delinsTG	XP_016874318.1:p.Gly698Val
XM_017018830.1:c.1886_1887delinsTG	XP_016874319.1:p.Gly629Val
XM_017018831.2:c.1406_1407delinsTG	XP_016874320.1:p.Gly469Val