Canonical Allele Identifier: CA2795861330
Gene: COL2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47977807_47977808insACA , CM000674.2:g.47977807_47977808insACA GRCh38
NC_000012.11:g.48371590_48371591insACA , CM000674.1:g.48371590_48371591insACA GRCh37
NC_000012.10:g.46657857_46657858insACA NCBI36
NG_008072.1:g.31695_31696insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000337299.7:c.2905-155_2905-154insTGT ENSP00000338213.6:n.2905-155_2905-154insTGT
ENST00000380518.8:c.3112-155_3112-154insTGT MANE Select ENSP00000369889.3:n.3112-155_3112-154insTGT
ENST00000337299.6:c.2905-155_2905-154insTGT ENSP00000338213.6:n.2905-155_2905-154insTGT
ENST00000380518.7:c.3112-155_3112-154insTGT ENSP00000369889.3:n.3112-155_3112-154insTGT
ENST00000493991.5:n.2198-155_2198-154insTGT
NM_001844.4:c.3112-155_3112-154insTGT NP_001835.3:n.3112-155_3112-154insTGT
NM_033150.2:c.2905-155_2905-154insTGT NP_149162.2:n.2905-155_2905-154insTGT
XM_006719242.2:c.3256-155_3256-154insTGT XP_006719305.2:n.3256-155_3256-154insTGT
XM_011537928.1:c.3256-155_3256-154insTGT XP_011536230.1:n.3256-155_3256-154insTGT
XM_011537929.1:c.3256-155_3256-154insTGT XP_011536231.1:n.3256-155_3256-154insTGT
XM_011537930.1:c.3256-155_3256-154insTGT XP_011536232.1:n.3256-155_3256-154insTGT
XM_011537931.1:c.3256-155_3256-154insTGT XP_011536233.1:n.3256-155_3256-154insTGT
XM_011537932.1:c.3256-155_3256-154insTGT XP_011536234.1:n.3256-155_3256-154insTGT
XM_011537933.1:c.3256-155_3256-154insTGT XP_011536235.1:n.3256-155_3256-154insTGT
XM_011537934.1:c.3253-155_3253-154insTGT XP_011536236.1:n.3253-155_3253-154insTGT
XM_011537935.1:c.2200-155_2200-154insTGT XP_011536237.1:n.2200-155_2200-154insTGT
XM_017018828.1:c.3256-155_3256-154insTGT XP_016874317.1:n.3256-155_3256-154insTGT
XM_017018829.1:c.3253-155_3253-154insTGT XP_016874318.1:n.3253-155_3253-154insTGT
XM_017018830.1:c.3046-155_3046-154insTGT XP_016874319.1:n.3046-155_3046-154insTGT
XM_017018831.2:c.2566-155_2566-154insTGT XP_016874320.1:n.2566-155_2566-154insTGT
NM_001844.5:c.3112-155_3112-154insTGT MANE Select NP_001835.3:n.3112-155_3112-154insTGT
NM_033150.3:c.2905-155_2905-154insTGT NP_149162.2:n.2905-155_2905-154insTGT