Canonical Allele Identifier: CA127183

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 17401
• ClinVar RCV Id: RCV000018945 ; RCV000657640 ; RCV002470714 ; RCV004532390
• dbSNP Id: rs121912897
• MyVariant Identifiers: chr12:g.48393802G>T (hg19) ; chr12:g.48000019G>T (hg38)
• PubMed: PMID:17721977

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.48000019G>T , CM000674.2:g.48000019G>T	GRCh38
NC_000012.11:g.48393802G>T , CM000674.1:g.48393802G>T	GRCh37
NC_000012.10:g.46680069G>T	NCBI36
NG_008072.1:g.9484C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.86-1588C>A	ENSP00000338213.6:n.86-1588C>A
ENST00000380518.8:c.192C>A MANE Select	ENSP00000369889.3:p.Cys64Ter
ENST00000490609.2:n.425C>A
ENST00000337299.6:c.86-1588C>A	ENSP00000338213.6:n.86-1588C>A
ENST00000380518.7:c.192C>A	ENSP00000369889.3:p.Cys64Ter
ENST00000474996.6:n.430C>A
ENST00000490609.1:n.357C>A
NM_001844.4:c.192C>A	NP_001835.3:p.Cys64Ter
NM_033150.2:c.86-1588C>A	NP_149162.2:n.86-1588C>A
XM_006719242.2:c.333C>A	XP_006719305.2:p.Cys111Ter
XM_011537928.1:c.333C>A	XP_011536230.1:p.Cys111Ter
XM_011537929.1:c.333C>A	XP_011536231.1:p.Cys111Ter
XM_011537930.1:c.333C>A	XP_011536232.1:p.Cys111Ter
XM_011537931.1:c.333C>A	XP_011536233.1:p.Cys111Ter
XM_011537932.1:c.333C>A	XP_011536234.1:p.Cys111Ter
XM_011537933.1:c.333C>A	XP_011536235.1:p.Cys111Ter
XM_011537934.1:c.333C>A	XP_011536236.1:p.Cys111Ter
XM_017018828.1:c.333C>A	XP_016874317.1:p.Cys111Ter
XM_017018829.1:c.333C>A	XP_016874318.1:p.Cys111Ter
XM_017018830.1:c.227-1588C>A	XP_016874319.1:n.227-1588C>A
XM_017018831.2:c.-355C>A	XP_016874320.1:n.-355C>A
NM_001844.5:c.192C>A MANE Select	NP_001835.3:p.Cys64Ter
NM_033150.3:c.86-1588C>A	NP_149162.2:n.86-1588C>A