Canonical Allele Identifier: CA6535840

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 2871414
• ClinVar RCV Id: RCV003698456
• dbSNP Id: rs776036012
• ExAC: 12:48389497 ACACCAGGTT / A
• gnomAD v2: 12-48389497-ACACCAGGTT-A
• gnomAD v3: 12-47995714-ACACCAGGTT-A
• gnomAD v4: 12-47995714-ACACCAGGTT-A
• MyVariant Identifiers: chr12:g.48389498_48389506del (hg19) ; chr12:g.47995716_47995724del (hg38) ; chr12:g.47995715_47995723del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47995731_47995739del , CM000674.2:g.47995731_47995739del	GRCh38
NC_000012.11:g.48389514_48389522del , CM000674.1:g.48389514_48389522del	GRCh37
NC_000012.10:g.46675781_46675789del	NCBI36
NG_008072.1:g.13780_13788del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.488_496del	ENSP00000338213.6:p.Glu163_Gly165del
ENST00000380518.8:c.695_703del MANE Select	ENSP00000369889.3:p.Glu232_Gly234del
ENST00000337299.6:c.488_496del	ENSP00000338213.6:p.Glu163_Gly165del
ENST00000380518.7:c.695_703del	ENSP00000369889.3:p.Glu232_Gly234del
NM_001844.4:c.695_703del	NP_001835.3:p.Glu232_Gly234del
NM_033150.2:c.488_496del	NP_149162.2:p.Glu163_Gly165del
XM_006719242.2:c.839_847del	XP_006719305.2:p.Glu280_Gly282del
XM_011537928.1:c.839_847del	XP_011536230.1:p.Glu280_Gly282del
XM_011537929.1:c.839_847del	XP_011536231.1:p.Glu280_Gly282del
XM_011537930.1:c.839_847del	XP_011536232.1:p.Glu280_Gly282del
XM_011537931.1:c.839_847del	XP_011536233.1:p.Glu280_Gly282del
XM_011537932.1:c.839_847del	XP_011536234.1:p.Glu280_Gly282del
XM_011537933.1:c.839_847del	XP_011536235.1:p.Glu280_Gly282del
XM_011537934.1:c.836_844del	XP_011536236.1:p.Glu279_Gly281del
XM_017018828.1:c.839_847del	XP_016874317.1:p.Glu280_Gly282del
XM_017018829.1:c.836_844del	XP_016874318.1:p.Glu279_Gly281del
XM_017018830.1:c.629_637del	XP_016874319.1:p.Glu210_Gly212del
XM_017018831.2:c.149_157del	XP_016874320.1:p.Glu50_Gly52del
NM_001844.5:c.695_703del MANE Select	NP_001835.3:p.Glu232_Gly234del
NM_033150.3:c.488_496del	NP_149162.2:p.Glu163_Gly165del