Canonical Allele Identifier: CA6535826

Gene: COL2A1

Linked Data

• dbSNP Id: rs772565973
• ExAC: 12:48389112 T / TTCCC
• gnomAD v2: 12-48389112-T-TTCCC
• gnomAD v3: 12-47995329-T-TTCCC
• gnomAD v4: 12-47995329-T-TTCCC
• MyVariant Identifiers: chr12:g.48389112_48389113insTCCC (hg19) ; chr12:g.47995329_47995330insTCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47995330_47995331insCCCT , CM000674.2:g.47995330_47995331insCCCT	GRCh38
NC_000012.11:g.48389113_48389114insCCCT , CM000674.1:g.48389113_48389114insCCCT	GRCh37
NC_000012.10:g.46675380_46675381insCCCT	NCBI36
NG_008072.1:g.14173_14174insGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.502-22_502-21insGGGA	ENSP00000338213.6:n.502-22_502-21insGGGA
ENST00000380518.8:c.709-22_709-21insGGGA MANE Select	ENSP00000369889.3:n.709-22_709-21insGGGA
ENST00000337299.6:c.502-22_502-21insGGGA	ENSP00000338213.6:n.502-22_502-21insGGGA
ENST00000380518.7:c.709-22_709-21insGGGA	ENSP00000369889.3:n.709-22_709-21insGGGA
NM_001844.4:c.709-22_709-21insGGGA	NP_001835.3:n.709-22_709-21insGGGA
NM_033150.2:c.502-22_502-21insGGGA	NP_149162.2:n.502-22_502-21insGGGA
XM_006719242.2:c.853-22_853-21insGGGA	XP_006719305.2:n.853-22_853-21insGGGA
XM_011537928.1:c.853-22_853-21insGGGA	XP_011536230.1:n.853-22_853-21insGGGA
XM_011537929.1:c.853-22_853-21insGGGA	XP_011536231.1:n.853-22_853-21insGGGA
XM_011537930.1:c.853-22_853-21insGGGA	XP_011536232.1:n.853-22_853-21insGGGA
XM_011537931.1:c.853-22_853-21insGGGA	XP_011536233.1:n.853-22_853-21insGGGA
XM_011537932.1:c.853-22_853-21insGGGA	XP_011536234.1:n.853-22_853-21insGGGA
XM_011537933.1:c.853-22_853-21insGGGA	XP_011536235.1:n.853-22_853-21insGGGA
XM_011537934.1:c.850-22_850-21insGGGA	XP_011536236.1:n.850-22_850-21insGGGA
XM_017018828.1:c.853-22_853-21insGGGA	XP_016874317.1:n.853-22_853-21insGGGA
XM_017018829.1:c.850-22_850-21insGGGA	XP_016874318.1:n.850-22_850-21insGGGA
XM_017018830.1:c.643-22_643-21insGGGA	XP_016874319.1:n.643-22_643-21insGGGA
XM_017018831.2:c.163-22_163-21insGGGA	XP_016874320.1:n.163-22_163-21insGGGA
NM_001844.5:c.709-22_709-21insGGGA MANE Select	NP_001835.3:n.709-22_709-21insGGGA
NM_033150.3:c.502-22_502-21insGGGA	NP_149162.2:n.502-22_502-21insGGGA