Canonical Allele Identifier: CA2618499851

Gene: COL2A1

Linked Data

• gnomAD v4: 12-47986061-T-TTG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47986061_47986062insTG , CM000674.2:g.47986061_47986062insTG	GRCh38
NC_000012.11:g.48379844_48379845insTG , CM000674.1:g.48379844_48379845insTG	GRCh37
NC_000012.10:g.46666111_46666112insTG	NCBI36
NG_008072.1:g.23441_23442insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.1321-97_1321-96insCA	ENSP00000338213.6:n.1321-97_1321-96insCA
ENST00000380518.8:c.1528-97_1528-96insCA MANE Select	ENSP00000369889.3:n.1528-97_1528-96insCA
ENST00000337299.6:c.1321-97_1321-96insCA	ENSP00000338213.6:n.1321-97_1321-96insCA
ENST00000380518.7:c.1528-97_1528-96insCA	ENSP00000369889.3:n.1528-97_1528-96insCA
ENST00000493991.5:n.452-97_452-96insCA
NM_001844.4:c.1528-97_1528-96insCA	NP_001835.3:n.1528-97_1528-96insCA
NM_033150.2:c.1321-97_1321-96insCA	NP_149162.2:n.1321-97_1321-96insCA
XM_006719242.2:c.1672-97_1672-96insCA	XP_006719305.2:n.1672-97_1672-96insCA
XM_011537928.1:c.1672-97_1672-96insCA	XP_011536230.1:n.1672-97_1672-96insCA
XM_011537929.1:c.1672-97_1672-96insCA	XP_011536231.1:n.1672-97_1672-96insCA
XM_011537930.1:c.1672-97_1672-96insCA	XP_011536232.1:n.1672-97_1672-96insCA
XM_011537931.1:c.1672-97_1672-96insCA	XP_011536233.1:n.1672-97_1672-96insCA
XM_011537932.1:c.1672-97_1672-96insCA	XP_011536234.1:n.1672-97_1672-96insCA
XM_011537933.1:c.1672-97_1672-96insCA	XP_011536235.1:n.1672-97_1672-96insCA
XM_011537934.1:c.1669-97_1669-96insCA	XP_011536236.1:n.1669-97_1669-96insCA
XM_011537935.1:c.616-97_616-96insCA	XP_011536237.1:n.616-97_616-96insCA
XM_017018828.1:c.1672-97_1672-96insCA	XP_016874317.1:n.1672-97_1672-96insCA
XM_017018829.1:c.1669-97_1669-96insCA	XP_016874318.1:n.1669-97_1669-96insCA
XM_017018830.1:c.1462-97_1462-96insCA	XP_016874319.1:n.1462-97_1462-96insCA
XM_017018831.2:c.982-97_982-96insCA	XP_016874320.1:n.982-97_982-96insCA
NM_001844.5:c.1528-97_1528-96insCA MANE Select	NP_001835.3:n.1528-97_1528-96insCA
NM_033150.3:c.1321-97_1321-96insCA	NP_149162.2:n.1321-97_1321-96insCA