Canonical Allele Identifier: CA2618517265

Gene: COL2A1

Linked Data

• gnomAD v4: 12-47983634-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47983634C>A , CM000674.2:g.47983634C>A	GRCh38
NC_000012.11:g.48377417C>A , CM000674.1:g.48377417C>A	GRCh37
NC_000012.10:g.46663684C>A	NCBI36
NG_008072.1:g.25869G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.1788+49G>T	ENSP00000338213.6:n.1788+49G>T
ENST00000380518.8:c.1995+49G>T MANE Select	ENSP00000369889.3:n.1995+49G>T
ENST00000337299.6:c.1788+49G>T	ENSP00000338213.6:n.1788+49G>T
ENST00000380518.7:c.1995+49G>T	ENSP00000369889.3:n.1995+49G>T
ENST00000483376.1:n.173+49G>T
ENST00000493991.5:n.919+49G>T
NM_001844.4:c.1995+49G>T	NP_001835.3:n.1995+49G>T
NM_033150.2:c.1788+49G>T	NP_149162.2:n.1788+49G>T
XM_006719242.2:c.2139+49G>T	XP_006719305.2:n.2139+49G>T
XM_011537928.1:c.2139+49G>T	XP_011536230.1:n.2139+49G>T
XM_011537929.1:c.2139+49G>T	XP_011536231.1:n.2139+49G>T
XM_011537930.1:c.2139+49G>T	XP_011536232.1:n.2139+49G>T
XM_011537931.1:c.2139+49G>T	XP_011536233.1:n.2139+49G>T
XM_011537932.1:c.2139+49G>T	XP_011536234.1:n.2139+49G>T
XM_011537933.1:c.2139+49G>T	XP_011536235.1:n.2139+49G>T
XM_011537934.1:c.2136+49G>T	XP_011536236.1:n.2136+49G>T
XM_011537935.1:c.1083+49G>T	XP_011536237.1:n.1083+49G>T
XM_017018828.1:c.2139+49G>T	XP_016874317.1:n.2139+49G>T
XM_017018829.1:c.2136+49G>T	XP_016874318.1:n.2136+49G>T
XM_017018830.1:c.1929+49G>T	XP_016874319.1:n.1929+49G>T
XM_017018831.2:c.1449+49G>T	XP_016874320.1:n.1449+49G>T
NM_001844.5:c.1995+49G>T MANE Select	NP_001835.3:n.1995+49G>T
NM_033150.3:c.1788+49G>T	NP_149162.2:n.1788+49G>T