Canonical Allele Identifier: CA2580085741

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 1708998
• ClinVar RCV Id: RCV002288282 ; RCV003097763 ; RCV003128453

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47976808_47976811del , CM000674.2:g.47976808_47976811del	GRCh38
NC_000012.11:g.48370591_48370594del , CM000674.1:g.48370591_48370594del	GRCh37
NC_000012.10:g.46656858_46656861del	NCBI36
NG_008072.1:g.32695_32698del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3228+4_3228+7del	ENSP00000338213.6:n.3228+4_3228+7del
ENST00000380518.8:c.3435+4_3435+7del MANE Select	ENSP00000369889.3:n.3435+4_3435+7del
ENST00000337299.6:c.3228+4_3228+7del	ENSP00000338213.6:n.3228+4_3228+7del
ENST00000380518.7:c.3435+4_3435+7del	ENSP00000369889.3:n.3435+4_3435+7del
ENST00000493991.5:n.2521+4_2521+7del
ENST00000546974.1:n.288+4_288+7del
NM_001844.4:c.3435+4_3435+7del	NP_001835.3:n.3435+4_3435+7del
NM_033150.2:c.3228+4_3228+7del	NP_149162.2:n.3228+4_3228+7del
XM_006719242.2:c.3579+4_3579+7del	XP_006719305.2:n.3579+4_3579+7del
XM_011537928.1:c.3579+4_3579+7del	XP_011536230.1:n.3579+4_3579+7del
XM_011537929.1:c.3579+4_3579+7del	XP_011536231.1:n.3579+4_3579+7del
XM_011537930.1:c.3579+4_3579+7del	XP_011536232.1:n.3579+4_3579+7del
XM_011537931.1:c.3579+4_3579+7del	XP_011536233.1:n.3579+4_3579+7del
XM_011537932.1:c.3579+4_3579+7del	XP_011536234.1:n.3579+4_3579+7del
XM_011537933.1:c.3579+4_3579+7del	XP_011536235.1:n.3579+4_3579+7del
XM_011537934.1:c.3576+4_3576+7del	XP_011536236.1:n.3576+4_3576+7del
XM_011537935.1:c.2523+4_2523+7del	XP_011536237.1:n.2523+4_2523+7del
XM_017018828.1:c.3579+4_3579+7del	XP_016874317.1:n.3579+4_3579+7del
XM_017018829.1:c.3576+4_3576+7del	XP_016874318.1:n.3576+4_3576+7del
XM_017018830.1:c.3369+4_3369+7del	XP_016874319.1:n.3369+4_3369+7del
XM_017018831.2:c.2889+4_2889+7del	XP_016874320.1:n.2889+4_2889+7del
NM_001844.5:c.3435+4_3435+7del MANE Select	NP_001835.3:n.3435+4_3435+7del
NM_033150.3:c.3228+4_3228+7del	NP_149162.2:n.3228+4_3228+7del