Canonical Allele Identifier: CA2795862784
Gene: COL2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47975563_47975564insACA , CM000674.2:g.47975563_47975564insACA GRCh38
NC_000012.11:g.48369346_48369347insACA , CM000674.1:g.48369346_48369347insACA GRCh37
NC_000012.10:g.46655613_46655614insACA NCBI36
NG_008072.1:g.33939_33940insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000337299.7:c.3432_3433insTGT ENSP00000338213.6:p.Pro1144_Pro1145insCys
ENST00000380518.8:c.3639_3640insTGT MANE Select ENSP00000369889.3:p.Pro1213_Pro1214insCys
ENST00000337299.6:c.3432_3433insTGT ENSP00000338213.6:p.Pro1144_Pro1145insCys
ENST00000380518.7:c.3639_3640insTGT ENSP00000369889.3:p.Pro1213_Pro1214insCys
ENST00000493991.5:n.2725_2726insTGT
ENST00000546974.1:n.492_493insTGT
NM_001844.4:c.3639_3640insTGT NP_001835.3:p.Pro1213_Pro1214insCys
NM_033150.2:c.3432_3433insTGT NP_149162.2:p.Pro1144_Pro1145insCys
XM_006719242.2:c.3783_3784insTGT XP_006719305.2:p.Pro1261_Pro1262insCys
XM_011537928.1:c.3783_3784insTGT XP_011536230.1:p.Pro1261_Pro1262insCys
XM_011537929.1:c.3783_3784insTGT XP_011536231.1:p.Pro1261_Pro1262insCys
XM_011537930.1:c.3783_3784insTGT XP_011536232.1:p.Pro1261_Pro1262insCys
XM_011537931.1:c.3783_3784insTGT XP_011536233.1:p.Pro1261_Pro1262insCys
XM_011537932.1:c.3783_3784insTGT XP_011536234.1:p.Pro1261_Pro1262insCys
XM_011537933.1:c.3783_3784insTGT XP_011536235.1:p.Pro1261_Pro1262insCys
XM_011537934.1:c.3780_3781insTGT XP_011536236.1:p.Pro1260_Pro1261insCys
XM_011537935.1:c.2727_2728insTGT XP_011536237.1:p.Pro909_Pro910insCys
XM_017018828.1:c.3783_3784insTGT XP_016874317.1:p.Pro1261_Pro1262insCys
XM_017018829.1:c.3780_3781insTGT XP_016874318.1:p.Pro1260_Pro1261insCys
XM_017018830.1:c.3573_3574insTGT XP_016874319.1:p.Pro1191_Pro1192insCys
XM_017018831.2:c.3093_3094insTGT XP_016874320.1:p.Pro1031_Pro1032insCys
NM_001844.5:c.3639_3640insTGT MANE Select NP_001835.3:p.Pro1213_Pro1214insCys
NM_033150.3:c.3432_3433insTGT NP_149162.2:p.Pro1144_Pro1145insCys