Canonical Allele Identifier: CA2618513504

Gene: COL2A1

Linked Data

• gnomAD v4: 12-47993632-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47993632A>G , CM000674.2:g.47993632A>G	GRCh38
NC_000012.11:g.48387415A>G , CM000674.1:g.48387415A>G	GRCh37
NC_000012.10:g.46673682A>G	NCBI36
NG_008072.1:g.15871T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.718-130T>C	ENSP00000338213.6:n.718-130T>C
ENST00000380518.8:c.925-130T>C MANE Select	ENSP00000369889.3:n.925-130T>C
ENST00000337299.6:c.718-130T>C	ENSP00000338213.6:n.718-130T>C
ENST00000380518.7:c.925-130T>C	ENSP00000369889.3:n.925-130T>C
NM_001844.4:c.925-130T>C	NP_001835.3:n.925-130T>C
NM_033150.2:c.718-130T>C	NP_149162.2:n.718-130T>C
XM_006719242.2:c.1069-130T>C	XP_006719305.2:n.1069-130T>C
XM_011537928.1:c.1069-130T>C	XP_011536230.1:n.1069-130T>C
XM_011537929.1:c.1069-130T>C	XP_011536231.1:n.1069-130T>C
XM_011537930.1:c.1069-130T>C	XP_011536232.1:n.1069-130T>C
XM_011537931.1:c.1069-130T>C	XP_011536233.1:n.1069-130T>C
XM_011537932.1:c.1069-130T>C	XP_011536234.1:n.1069-130T>C
XM_011537933.1:c.1069-130T>C	XP_011536235.1:n.1069-130T>C
XM_011537934.1:c.1066-130T>C	XP_011536236.1:n.1066-130T>C
XM_017018828.1:c.1069-130T>C	XP_016874317.1:n.1069-130T>C
XM_017018829.1:c.1066-130T>C	XP_016874318.1:n.1066-130T>C
XM_017018830.1:c.859-130T>C	XP_016874319.1:n.859-130T>C
XM_017018831.2:c.379-130T>C	XP_016874320.1:n.379-130T>C
NM_001844.5:c.925-130T>C MANE Select	NP_001835.3:n.925-130T>C
NM_033150.3:c.718-130T>C	NP_149162.2:n.718-130T>C