Canonical Allele Identifier: CA2573148599

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 1428682
• ClinVar RCV Id: RCV001936427

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47975611_47976075del , CM000674.2:g.47975611_47976075del	GRCh38
NC_000012.11:g.48369394_48369858del , CM000674.1:g.48369394_48369858del	GRCh37
NC_000012.10:g.46655661_46656125del	NCBI36
NG_008072.1:g.33444_33908del

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.3294_3401del
ENST00000380518.8:c.3501_3608del
ENST00000337299.6:c.3294_3401del
ENST00000380518.7:c.3501_3608del
ENST00000493991.5:n.2587_2694del
ENST00000546974.1:n.354_461del
NM_001844.4:c.3501_3608del
NM_033150.2:c.3294_3401del
XM_006719242.2:c.3645_3752del
XM_011537928.1:c.3645_3752del
XM_011537929.1:c.3645_3752del
XM_011537930.1:c.3645_3752del
XM_011537931.1:c.3645_3752del
XM_011537932.1:c.3645_3752del
XM_011537933.1:c.3645_3752del
XM_011537934.1:c.3642_3749del
XM_011537935.1:c.2589_2696del
XM_017018828.1:c.3645_3752del
XM_017018829.1:c.3642_3749del
XM_017018830.1:c.3435_3542del
XM_017018831.2:c.2955_3062del
NM_001844.5:c.3501_3608del
NM_033150.3:c.3294_3401del