Canonical Allele Identifier: CA604839112

Gene: COL2A1

Linked Data

• dbSNP Id: rs1468567708
• gnomAD v2: 12-48389567-A-G
• MyVariant Identifiers: chr12:g.48389567A>G (hg19) ; chr12:g.47995784A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47995784A>G , CM000674.2:g.47995784A>G	GRCh38
NC_000012.11:g.48389567A>G , CM000674.1:g.48389567A>G	GRCh37
NC_000012.10:g.46675834A>G	NCBI36
NG_008072.1:g.13719T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.448-21T>C	ENSP00000338213.6:n.448-21T>C
ENST00000380518.8:c.655-21T>C MANE Select	ENSP00000369889.3:n.655-21T>C
ENST00000337299.6:c.448-21T>C	ENSP00000338213.6:n.448-21T>C
ENST00000380518.7:c.655-21T>C	ENSP00000369889.3:n.655-21T>C
NM_001844.4:c.655-21T>C	NP_001835.3:n.655-21T>C
NM_033150.2:c.448-21T>C	NP_149162.2:n.448-21T>C
XM_006719242.2:c.799-21T>C	XP_006719305.2:n.799-21T>C
XM_011537928.1:c.799-21T>C	XP_011536230.1:n.799-21T>C
XM_011537929.1:c.799-21T>C	XP_011536231.1:n.799-21T>C
XM_011537930.1:c.799-21T>C	XP_011536232.1:n.799-21T>C
XM_011537931.1:c.799-21T>C	XP_011536233.1:n.799-21T>C
XM_011537932.1:c.799-21T>C	XP_011536234.1:n.799-21T>C
XM_011537933.1:c.799-21T>C	XP_011536235.1:n.799-21T>C
XM_011537934.1:c.796-21T>C	XP_011536236.1:n.796-21T>C
XM_017018828.1:c.799-21T>C	XP_016874317.1:n.799-21T>C
XM_017018829.1:c.796-21T>C	XP_016874318.1:n.796-21T>C
XM_017018830.1:c.589-21T>C	XP_016874319.1:n.589-21T>C
XM_017018831.2:c.109-21T>C	XP_016874320.1:n.109-21T>C
NM_001844.5:c.655-21T>C MANE Select	NP_001835.3:n.655-21T>C
NM_033150.3:c.448-21T>C	NP_149162.2:n.448-21T>C