Canonical Allele Identifier: CA2795862974
Gene: COL2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47975691_47975692insAGT , CM000674.2:g.47975691_47975692insAGT GRCh38
NC_000012.11:g.48369474_48369475insAGT , CM000674.1:g.48369474_48369475insAGT GRCh37
NC_000012.10:g.46655741_46655742insAGT NCBI36
NG_008072.1:g.33811_33812insACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000337299.7:c.3391-87_3391-86insACT ENSP00000338213.6:n.3391-87_3391-86insACT
ENST00000380518.8:c.3598-87_3598-86insACT MANE Select ENSP00000369889.3:n.3598-87_3598-86insACT
ENST00000337299.6:c.3391-87_3391-86insACT ENSP00000338213.6:n.3391-87_3391-86insACT
ENST00000380518.7:c.3598-87_3598-86insACT ENSP00000369889.3:n.3598-87_3598-86insACT
ENST00000493991.5:n.2684-87_2684-86insACT
ENST00000546974.1:n.451-87_451-86insACT
NM_001844.4:c.3598-87_3598-86insACT NP_001835.3:n.3598-87_3598-86insACT
NM_033150.2:c.3391-87_3391-86insACT NP_149162.2:n.3391-87_3391-86insACT
XM_006719242.2:c.3742-87_3742-86insACT XP_006719305.2:n.3742-87_3742-86insACT
XM_011537928.1:c.3742-87_3742-86insACT XP_011536230.1:n.3742-87_3742-86insACT
XM_011537929.1:c.3742-87_3742-86insACT XP_011536231.1:n.3742-87_3742-86insACT
XM_011537930.1:c.3742-87_3742-86insACT XP_011536232.1:n.3742-87_3742-86insACT
XM_011537931.1:c.3742-87_3742-86insACT XP_011536233.1:n.3742-87_3742-86insACT
XM_011537932.1:c.3742-87_3742-86insACT XP_011536234.1:n.3742-87_3742-86insACT
XM_011537933.1:c.3742-87_3742-86insACT XP_011536235.1:n.3742-87_3742-86insACT
XM_011537934.1:c.3739-87_3739-86insACT XP_011536236.1:n.3739-87_3739-86insACT
XM_011537935.1:c.2686-87_2686-86insACT XP_011536237.1:n.2686-87_2686-86insACT
XM_017018828.1:c.3742-87_3742-86insACT XP_016874317.1:n.3742-87_3742-86insACT
XM_017018829.1:c.3739-87_3739-86insACT XP_016874318.1:n.3739-87_3739-86insACT
XM_017018830.1:c.3532-87_3532-86insACT XP_016874319.1:n.3532-87_3532-86insACT
XM_017018831.2:c.3052-87_3052-86insACT XP_016874320.1:n.3052-87_3052-86insACT
NM_001844.5:c.3598-87_3598-86insACT MANE Select NP_001835.3:n.3598-87_3598-86insACT
NM_033150.3:c.3391-87_3391-86insACT NP_149162.2:n.3391-87_3391-86insACT