Canonical Allele Identifier: CA2034476319
Gene: COL2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47977214_47977215delinsGC , CM000674.2:g.47977214_47977215delinsGC GRCh38
NC_000012.11:g.48370997_48370998delinsGC , CM000674.1:g.48370997_48370998delinsGC GRCh37
NC_000012.10:g.46657264_46657265delinsGC NCBI36
NG_008072.1:g.32288_32289delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000337299.7:c.3067-60_3067-59delinsGC ENSP00000338213.6:n.3067-60_3067-59delinsGC
ENST00000380518.8:c.3274-60_3274-59delinsGC MANE Select ENSP00000369889.3:n.3274-60_3274-59delinsGC
ENST00000337299.6:c.3067-60_3067-59delinsGC ENSP00000338213.6:n.3067-60_3067-59delinsGC
ENST00000380518.7:c.3274-60_3274-59delinsGC ENSP00000369889.3:n.3274-60_3274-59delinsGC
ENST00000493991.5:n.2360-60_2360-59delinsGC
ENST00000546974.1:n.127-60_127-59delinsGC
NM_001844.4:c.3274-60_3274-59delinsGC NP_001835.3:n.3274-60_3274-59delinsGC
NM_033150.2:c.3067-60_3067-59delinsGC NP_149162.2:n.3067-60_3067-59delinsGC
XM_006719242.2:c.3418-60_3418-59delinsGC XP_006719305.2:n.3418-60_3418-59delinsGC
XM_011537928.1:c.3418-60_3418-59delinsGC XP_011536230.1:n.3418-60_3418-59delinsGC
XM_011537929.1:c.3418-60_3418-59delinsGC XP_011536231.1:n.3418-60_3418-59delinsGC
XM_011537930.1:c.3418-60_3418-59delinsGC XP_011536232.1:n.3418-60_3418-59delinsGC
XM_011537931.1:c.3418-60_3418-59delinsGC XP_011536233.1:n.3418-60_3418-59delinsGC
XM_011537932.1:c.3418-60_3418-59delinsGC XP_011536234.1:n.3418-60_3418-59delinsGC
XM_011537933.1:c.3418-60_3418-59delinsGC XP_011536235.1:n.3418-60_3418-59delinsGC
XM_011537934.1:c.3415-60_3415-59delinsGC XP_011536236.1:n.3415-60_3415-59delinsGC
XM_011537935.1:c.2362-60_2362-59delinsGC XP_011536237.1:n.2362-60_2362-59delinsGC
XM_017018828.1:c.3418-60_3418-59delinsGC XP_016874317.1:n.3418-60_3418-59delinsGC
XM_017018829.1:c.3415-60_3415-59delinsGC XP_016874318.1:n.3415-60_3415-59delinsGC
XM_017018830.1:c.3208-60_3208-59delinsGC XP_016874319.1:n.3208-60_3208-59delinsGC
XM_017018831.2:c.2728-60_2728-59delinsGC XP_016874320.1:n.2728-60_2728-59delinsGC
NM_001844.5:c.3274-60_3274-59delinsGC MANE Select NP_001835.3:n.3274-60_3274-59delinsGC
NM_033150.3:c.3067-60_3067-59delinsGC NP_149162.2:n.3067-60_3067-59delinsGC