Canonical Allele Identifier: CA127185
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17402
ClinVar RCV Id: RCV000018946
dbSNP Id: rs121912898
gnomAD v4: 12-48000041-C-T
MyVariant Identifiers: chr12:g.48393824C>T (hg19) chr12:g.48000041C>T (hg38)
PubMed: PMID:17721977
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48000041C>T , CM000674.2:g.48000041C>T GRCh38
NC_000012.11:g.48393824C>T , CM000674.1:g.48393824C>T GRCh37
NC_000012.10:g.46680091C>T NCBI36
NG_008072.1:g.9462G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000337299.7:c.86-1610G>A ENSP00000338213.6:n.86-1610G>A
ENST00000380518.8:c.170G>A MANE Select ENSP00000369889.3:p.Cys57Tyr
ENST00000490609.2:n.403G>A
ENST00000337299.6:c.86-1610G>A ENSP00000338213.6:n.86-1610G>A
ENST00000380518.7:c.170G>A ENSP00000369889.3:p.Cys57Tyr
ENST00000474996.6:n.408G>A
ENST00000490609.1:n.335G>A
NM_001844.4:c.170G>A NP_001835.3:p.Cys57Tyr
NM_033150.2:c.86-1610G>A NP_149162.2:n.86-1610G>A
XM_006719242.2:c.311G>A XP_006719305.2:p.Cys104Tyr
XM_011537928.1:c.311G>A XP_011536230.1:p.Cys104Tyr
XM_011537929.1:c.311G>A XP_011536231.1:p.Cys104Tyr
XM_011537930.1:c.311G>A XP_011536232.1:p.Cys104Tyr
XM_011537931.1:c.311G>A XP_011536233.1:p.Cys104Tyr
XM_011537932.1:c.311G>A XP_011536234.1:p.Cys104Tyr
XM_011537933.1:c.311G>A XP_011536235.1:p.Cys104Tyr
XM_011537934.1:c.311G>A XP_011536236.1:p.Cys104Tyr
XM_017018828.1:c.311G>A XP_016874317.1:p.Cys104Tyr
XM_017018829.1:c.311G>A XP_016874318.1:p.Cys104Tyr
XM_017018830.1:c.227-1610G>A XP_016874319.1:n.227-1610G>A
XM_017018831.2:c.-377G>A XP_016874320.1:n.-377G>A
NM_001844.5:c.170G>A MANE Select NP_001835.3:p.Cys57Tyr
NM_033150.3:c.86-1610G>A NP_149162.2:n.86-1610G>A
Search 100 bp 5'
Search 100 bp 3'