Canonical Allele Identifier: CA2499221672

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 1108352
• ClinVar RCV Id: RCV001433823
• dbSNP Id: rs2136567481

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47985719_47985720delinsTA , CM000674.2:g.47985719_47985720delinsTA	GRCh38
NC_000012.11:g.48379502_48379503delinsTA , CM000674.1:g.48379502_48379503delinsTA	GRCh37
NC_000012.10:g.46665769_46665770delinsTA	NCBI36
NG_008072.1:g.23783_23784delinsTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.1473+8_1473+9delinsTA	ENSP00000338213.6:n.1473+8_1473+9delinsTA
ENST00000380518.8:c.1680+8_1680+9delinsTA MANE Select	ENSP00000369889.3:n.1680+8_1680+9delinsTA
ENST00000337299.6:c.1473+8_1473+9delinsTA	ENSP00000338213.6:n.1473+8_1473+9delinsTA
ENST00000380518.7:c.1680+8_1680+9delinsTA	ENSP00000369889.3:n.1680+8_1680+9delinsTA
ENST00000493991.5:n.604+8_604+9delinsTA
NM_001844.4:c.1680+8_1680+9delinsTA	NP_001835.3:n.1680+8_1680+9delinsTA
NM_033150.2:c.1473+8_1473+9delinsTA	NP_149162.2:n.1473+8_1473+9delinsTA
XM_006719242.2:c.1824+8_1824+9delinsTA	XP_006719305.2:n.1824+8_1824+9delinsTA
XM_011537928.1:c.1824+8_1824+9delinsTA	XP_011536230.1:n.1824+8_1824+9delinsTA
XM_011537929.1:c.1824+8_1824+9delinsTA	XP_011536231.1:n.1824+8_1824+9delinsTA
XM_011537930.1:c.1824+8_1824+9delinsTA	XP_011536232.1:n.1824+8_1824+9delinsTA
XM_011537931.1:c.1824+8_1824+9delinsTA	XP_011536233.1:n.1824+8_1824+9delinsTA
XM_011537932.1:c.1824+8_1824+9delinsTA	XP_011536234.1:n.1824+8_1824+9delinsTA
XM_011537933.1:c.1824+8_1824+9delinsTA	XP_011536235.1:n.1824+8_1824+9delinsTA
XM_011537934.1:c.1821+8_1821+9delinsTA	XP_011536236.1:n.1821+8_1821+9delinsTA
XM_011537935.1:c.768+8_768+9delinsTA	XP_011536237.1:n.768+8_768+9delinsTA
XM_017018828.1:c.1824+8_1824+9delinsTA	XP_016874317.1:n.1824+8_1824+9delinsTA
XM_017018829.1:c.1821+8_1821+9delinsTA	XP_016874318.1:n.1821+8_1821+9delinsTA
XM_017018830.1:c.1614+8_1614+9delinsTA	XP_016874319.1:n.1614+8_1614+9delinsTA
XM_017018831.2:c.1134+8_1134+9delinsTA	XP_016874320.1:n.1134+8_1134+9delinsTA
NM_001844.5:c.1680+8_1680+9delinsTA MANE Select	NP_001835.3:n.1680+8_1680+9delinsTA
NM_033150.3:c.1473+8_1473+9delinsTA	NP_149162.2:n.1473+8_1473+9delinsTA