Canonical Allele Identifier: CA947351677
Gene: COL2A1 HGNC NCBI

Linked Data

dbSNP Id: rs1938760897

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47977203_47977205del , CM000674.2:g.47977203_47977205del GRCh38
NC_000012.11:g.48370986_48370988del , CM000674.1:g.48370986_48370988del GRCh37
NC_000012.10:g.46657253_46657255del NCBI36
NG_008072.1:g.32300_32302del

Transcript Alleles

HGVS Amino-acid Change
ENST00000337299.7:c.3067-48_3067-46del ENSP00000338213.6:n.3067-48_3067-46del
ENST00000380518.8:c.3274-48_3274-46del MANE Select ENSP00000369889.3:n.3274-48_3274-46del
ENST00000337299.6:c.3067-48_3067-46del ENSP00000338213.6:n.3067-48_3067-46del
ENST00000380518.7:c.3274-48_3274-46del ENSP00000369889.3:n.3274-48_3274-46del
ENST00000493991.5:n.2360-48_2360-46del
ENST00000546974.1:n.127-48_127-46del
NM_001844.4:c.3274-48_3274-46del NP_001835.3:n.3274-48_3274-46del
NM_033150.2:c.3067-48_3067-46del NP_149162.2:n.3067-48_3067-46del
XM_006719242.2:c.3418-48_3418-46del XP_006719305.2:n.3418-48_3418-46del
XM_011537928.1:c.3418-48_3418-46del XP_011536230.1:n.3418-48_3418-46del
XM_011537929.1:c.3418-48_3418-46del XP_011536231.1:n.3418-48_3418-46del
XM_011537930.1:c.3418-48_3418-46del XP_011536232.1:n.3418-48_3418-46del
XM_011537931.1:c.3418-48_3418-46del XP_011536233.1:n.3418-48_3418-46del
XM_011537932.1:c.3418-48_3418-46del XP_011536234.1:n.3418-48_3418-46del
XM_011537933.1:c.3418-48_3418-46del XP_011536235.1:n.3418-48_3418-46del
XM_011537934.1:c.3415-48_3415-46del XP_011536236.1:n.3415-48_3415-46del
XM_011537935.1:c.2362-48_2362-46del XP_011536237.1:n.2362-48_2362-46del
XM_017018828.1:c.3418-48_3418-46del XP_016874317.1:n.3418-48_3418-46del
XM_017018829.1:c.3415-48_3415-46del XP_016874318.1:n.3415-48_3415-46del
XM_017018830.1:c.3208-48_3208-46del XP_016874319.1:n.3208-48_3208-46del
XM_017018831.2:c.2728-48_2728-46del XP_016874320.1:n.2728-48_2728-46del
NM_001844.5:c.3274-48_3274-46del MANE Select NP_001835.3:n.3274-48_3274-46del
NM_033150.3:c.3067-48_3067-46del NP_149162.2:n.3067-48_3067-46del