Canonical Allele Identifier: CA281464

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 162040
• ClinVar RCV Id: RCV000149457
• dbSNP Id: rs672601354
• MyVariant Identifiers: chr12:g.48370672_48370673insAG (hg19) ; chr12:g.47976889_47976890insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47976889_47976890insAG , CM000674.2:g.47976889_47976890insAG	GRCh38
NC_000012.11:g.48370672_48370673insAG , CM000674.1:g.48370672_48370673insAG	GRCh37
NC_000012.10:g.46656939_46656940insAG	NCBI36
NG_008072.1:g.32613_32614insCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.3150_3151insCT	ENSP00000338213.6:p.Glu1051LeufsTer11
ENST00000380518.8:c.3357_3358insCT MANE Select	ENSP00000369889.3:p.Glu1120LeufsTer11
ENST00000337299.6:c.3150_3151insCT	ENSP00000338213.6:p.Glu1051LeufsTer11
ENST00000380518.7:c.3357_3358insCT	ENSP00000369889.3:p.Glu1120LeufsTer11
ENST00000493991.5:n.2443_2444insCT
ENST00000546974.1:n.210_211insCT
NM_001844.4:c.3357_3358insCT	NP_001835.3:p.Glu1120LeufsTer11
NM_033150.2:c.3150_3151insCT	NP_149162.2:p.Glu1051LeufsTer11
XM_006719242.2:c.3501_3502insCT	XP_006719305.2:p.Glu1168LeufsTer11
XM_011537928.1:c.3501_3502insCT	XP_011536230.1:p.Glu1168LeufsTer11
XM_011537929.1:c.3501_3502insCT	XP_011536231.1:p.Glu1168LeufsTer11
XM_011537930.1:c.3501_3502insCT	XP_011536232.1:p.Glu1168LeufsTer11
XM_011537931.1:c.3501_3502insCT	XP_011536233.1:p.Glu1168LeufsTer11
XM_011537932.1:c.3501_3502insCT	XP_011536234.1:p.Glu1168LeufsTer11
XM_011537933.1:c.3501_3502insCT	XP_011536235.1:p.Glu1168LeufsTer11
XM_011537934.1:c.3498_3499insCT	XP_011536236.1:p.Glu1167LeufsTer11
XM_011537935.1:c.2445_2446insCT	XP_011536237.1:p.Glu816LeufsTer11
XM_017018828.1:c.3501_3502insCT	XP_016874317.1:p.Glu1168LeufsTer11
XM_017018829.1:c.3498_3499insCT	XP_016874318.1:p.Glu1167LeufsTer11
XM_017018830.1:c.3291_3292insCT	XP_016874319.1:p.Glu1098LeufsTer11
XM_017018831.2:c.2811_2812insCT	XP_016874320.1:p.Glu938LeufsTer11
NM_001844.5:c.3357_3358insCT MANE Select	NP_001835.3:p.Glu1120LeufsTer11
NM_033150.3:c.3150_3151insCT	NP_149162.2:p.Glu1051LeufsTer11