Canonical Allele Identifier: CA16042883
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373012
ClinVar RCV Id: RCV000414483
dbSNP Id: rs1057518139
MyVariant Identifiers: chr12:g.48375559_48375561del (hg19) chr12:g.47981776_47981778del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47981778_47981780del , CM000674.2:g.47981778_47981780del GRCh38
NC_000012.11:g.48375561_48375563del , CM000674.1:g.48375561_48375563del GRCh37
NC_000012.10:g.46661828_46661830del NCBI36
NG_008072.1:g.27725_27727del

Transcript Alleles

HGVS Amino-acid change
ENST00000337299.7:c.2200_2202del ENSP00000338213.6:p.Lys734del
ENST00000380518.8:c.2407_2409del MANE Select ENSP00000369889.3:p.Lys803del
ENST00000337299.6:c.2200_2202del ENSP00000338213.6:p.Lys734del
ENST00000380518.7:c.2407_2409del ENSP00000369889.3:p.Lys803del
ENST00000483376.1:n.585_587del
ENST00000493991.5:n.1493_1495del
NM_001844.4:c.2407_2409del NP_001835.3:p.Lys803del
NM_033150.2:c.2200_2202del NP_149162.2:p.Lys734del
XM_006719242.2:c.2551_2553del XP_006719305.2:p.Lys851del
XM_011537928.1:c.2551_2553del XP_011536230.1:p.Lys851del
XM_011537929.1:c.2551_2553del XP_011536231.1:p.Lys851del
XM_011537930.1:c.2551_2553del XP_011536232.1:p.Lys851del
XM_011537931.1:c.2551_2553del XP_011536233.1:p.Lys851del
XM_011537932.1:c.2551_2553del XP_011536234.1:p.Lys851del
XM_011537933.1:c.2551_2553del XP_011536235.1:p.Lys851del
XM_011537934.1:c.2548_2550del XP_011536236.1:p.Lys850del
XM_011537935.1:c.1495_1497del XP_011536237.1:p.Lys499del
XR_944910.1:n.208+352_208+354del
XM_017018828.1:c.2551_2553del XP_016874317.1:p.Lys851del
XM_017018829.1:c.2548_2550del XP_016874318.1:p.Lys850del
XM_017018830.1:c.2341_2343del XP_016874319.1:p.Lys781del
XM_017018831.2:c.1861_1863del XP_016874320.1:p.Lys621del
NM_001844.5:c.2407_2409del MANE Select NP_001835.3:p.Lys803del
NM_033150.3:c.2200_2202del NP_149162.2:p.Lys734del
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