Canonical Allele Identifier: CA2034476693
Gene: COL2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47978041_47978059delinsAGGCCAGGAGGACCCACGG , CM000674.2:g.47978041_47978059delinsAGGCCAGGAGGACCCACGG GRCh38
NC_000012.11:g.48371824_48371842delinsAGGCCAGGAGGACCCACGG , CM000674.1:g.48371824_48371842delinsAGGCCAGGAGGACCCACGG GRCh37
NC_000012.10:g.46658091_46658109delinsAGGCCAGGAGGACCCACGG NCBI36
NG_008072.1:g.31444_31462delinsCCGTGGGTCCTCCTGGCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000337299.7:c.2855_2873delinsCCGTGGGTCCTCCTGGCCT ENSP00000338213.6:p.Pro952=
ENST00000380518.8:c.3062_3080delinsCCGTGGGTCCTCCTGGCCT MANE Select ENSP00000369889.3:p.Pro1021=
ENST00000337299.6:c.2855_2873delinsCCGTGGGTCCTCCTGGCCT ENSP00000338213.6:p.Pro952=
ENST00000380518.7:c.3062_3080delinsCCGTGGGTCCTCCTGGCCT ENSP00000369889.3:p.Pro1021=
ENST00000493991.5:n.2148_2166delinsCCGTGGGTCCTCCTGGCCT
NM_001844.4:c.3062_3080delinsCCGTGGGTCCTCCTGGCCT NP_001835.3:p.Pro1021=
NM_033150.2:c.2855_2873delinsCCGTGGGTCCTCCTGGCCT NP_149162.2:p.Pro952=
XM_006719242.2:c.3206_3224delinsCCGTGGGTCCTCCTGGCCT XP_006719305.2:p.Pro1069=
XM_011537928.1:c.3206_3224delinsCCGTGGGTCCTCCTGGCCT XP_011536230.1:p.Pro1069=
XM_011537929.1:c.3206_3224delinsCCGTGGGTCCTCCTGGCCT XP_011536231.1:p.Pro1069=
XM_011537930.1:c.3206_3224delinsCCGTGGGTCCTCCTGGCCT XP_011536232.1:p.Pro1069=
XM_011537931.1:c.3206_3224delinsCCGTGGGTCCTCCTGGCCT XP_011536233.1:p.Pro1069=
XM_011537932.1:c.3206_3224delinsCCGTGGGTCCTCCTGGCCT XP_011536234.1:p.Pro1069=
XM_011537933.1:c.3206_3224delinsCCGTGGGTCCTCCTGGCCT XP_011536235.1:p.Pro1069=
XM_011537934.1:c.3203_3221delinsCCGTGGGTCCTCCTGGCCT XP_011536236.1:p.Pro1068=
XM_011537935.1:c.2150_2168delinsCCGTGGGTCCTCCTGGCCT XP_011536237.1:p.Pro717=
XM_017018828.1:c.3206_3224delinsCCGTGGGTCCTCCTGGCCT XP_016874317.1:p.Pro1069=
XM_017018829.1:c.3203_3221delinsCCGTGGGTCCTCCTGGCCT XP_016874318.1:p.Pro1068=
XM_017018830.1:c.2996_3014delinsCCGTGGGTCCTCCTGGCCT XP_016874319.1:p.Pro999=
XM_017018831.2:c.2516_2534delinsCCGTGGGTCCTCCTGGCCT XP_016874320.1:p.Pro839=
NM_001844.5:c.3062_3080delinsCCGTGGGTCCTCCTGGCCT MANE Select NP_001835.3:p.Pro1021=
NM_033150.3:c.2855_2873delinsCCGTGGGTCCTCCTGGCCT NP_149162.2:p.Pro952=