Canonical Allele Identifier: CA2573053670

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 1326896
• ClinVar RCV Id: RCV001787281
• dbSNP Id: rs1064794958

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47987264C>G , CM000674.2:g.47987264C>G	GRCh38
NC_000012.11:g.48381047C>G , CM000674.1:g.48381047C>G	GRCh37
NC_000012.10:g.46667314C>G	NCBI36
NG_008072.1:g.22239G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.1059+5G>C	ENSP00000338213.6:n.1059+5G>C
ENST00000380518.8:c.1266+5G>C MANE Select	ENSP00000369889.3:n.1266+5G>C
ENST00000337299.6:c.1059+5G>C	ENSP00000338213.6:n.1059+5G>C
ENST00000380518.7:c.1266+5G>C	ENSP00000369889.3:n.1266+5G>C
ENST00000493991.5:n.190+5G>C
NM_001844.4:c.1266+5G>C	NP_001835.3:n.1266+5G>C
NM_033150.2:c.1059+5G>C	NP_149162.2:n.1059+5G>C
XM_006719242.2:c.1410+5G>C	XP_006719305.2:n.1410+5G>C
XM_011537928.1:c.1410+5G>C	XP_011536230.1:n.1410+5G>C
XM_011537929.1:c.1410+5G>C	XP_011536231.1:n.1410+5G>C
XM_011537930.1:c.1410+5G>C	XP_011536232.1:n.1410+5G>C
XM_011537931.1:c.1410+5G>C	XP_011536233.1:n.1410+5G>C
XM_011537932.1:c.1410+5G>C	XP_011536234.1:n.1410+5G>C
XM_011537933.1:c.1410+5G>C	XP_011536235.1:n.1410+5G>C
XM_011537934.1:c.1407+5G>C	XP_011536236.1:n.1407+5G>C
XM_011537935.1:c.354+5G>C	XP_011536237.1:n.354+5G>C
XM_017018828.1:c.1410+5G>C	XP_016874317.1:n.1410+5G>C
XM_017018829.1:c.1407+5G>C	XP_016874318.1:n.1407+5G>C
XM_017018830.1:c.1200+5G>C	XP_016874319.1:n.1200+5G>C
XM_017018831.2:c.720+5G>C	XP_016874320.1:n.720+5G>C
NM_001844.5:c.1266+5G>C MANE Select	NP_001835.3:n.1266+5G>C
NM_033150.3:c.1059+5G>C	NP_149162.2:n.1059+5G>C