Canonical Allele Identifier: CA384521889
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 449001
ClinVar RCV Id: RCV000518971 RCV001254635 RCV002506265 RCV001814182 RCV001027723 RCV003403225
dbSNP Id: rs1555168505
COSMIC: COSM4673768 COSM4673769
MyVariant Identifiers: chr12:g.48387611G>A (hg19) chr12:g.47993828G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47993828G>A , CM000674.2:g.47993828G>A GRCh38
NC_000012.11:g.48387611G>A , CM000674.1:g.48387611G>A GRCh37
NC_000012.10:g.46673878G>A NCBI36
NG_008072.1:g.15675C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000337299.7:c.698C>T ENSP00000338213.6:p.Ala233Val
ENST00000380518.8:c.905C>T MANE Select ENSP00000369889.3:p.Ala302Val
ENST00000337299.6:c.698C>T ENSP00000338213.6:p.Ala233Val
ENST00000380518.7:c.905C>T ENSP00000369889.3:p.Ala302Val
NM_001844.4:c.905C>T NP_001835.3:p.Ala302Val
NM_033150.2:c.698C>T NP_149162.2:p.Ala233Val
XM_006719242.2:c.1049C>T XP_006719305.2:p.Ala350Val
XM_011537928.1:c.1049C>T XP_011536230.1:p.Ala350Val
XM_011537929.1:c.1049C>T XP_011536231.1:p.Ala350Val
XM_011537930.1:c.1049C>T XP_011536232.1:p.Ala350Val
XM_011537931.1:c.1049C>T XP_011536233.1:p.Ala350Val
XM_011537932.1:c.1049C>T XP_011536234.1:p.Ala350Val
XM_011537933.1:c.1049C>T XP_011536235.1:p.Ala350Val
XM_011537934.1:c.1046C>T XP_011536236.1:p.Ala349Val
XM_017018828.1:c.1049C>T XP_016874317.1:p.Ala350Val
XM_017018829.1:c.1046C>T XP_016874318.1:p.Ala349Val
XM_017018830.1:c.839C>T XP_016874319.1:p.Ala280Val
XM_017018831.2:c.359C>T XP_016874320.1:p.Ala120Val
NM_001844.5:c.905C>T MANE Select NP_001835.3:p.Ala302Val
NM_033150.3:c.698C>T NP_149162.2:p.Ala233Val
Search 100 bp 5'
Search 100 bp 3'