Canonical Allele Identifier: CA6534870

Gene: COL2A1

Linked Data

• dbSNP Id: rs758162798
• ExAC: 12:48371404 T / A
• gnomAD v2: 12-48371404-T-A
• gnomAD v4: 12-47977621-T-A
• MyVariant Identifiers: chr12:g.48371404T>A (hg19) ; chr12:g.47977621T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977621T>A , CM000674.2:g.47977621T>A	GRCh38
NC_000012.11:g.48371404T>A , CM000674.1:g.48371404T>A	GRCh37
NC_000012.10:g.46657671T>A	NCBI36
NG_008072.1:g.31882A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.2937A>T	ENSP00000338213.6:p.Arg979Ser
ENST00000380518.8:c.3144A>T MANE Select	ENSP00000369889.3:p.Arg1048Ser
ENST00000337299.6:c.2937A>T	ENSP00000338213.6:p.Arg979Ser
ENST00000380518.7:c.3144A>T	ENSP00000369889.3:p.Arg1048Ser
ENST00000493991.5:n.2230A>T
NM_001844.4:c.3144A>T	NP_001835.3:p.Arg1048Ser
NM_033150.2:c.2937A>T	NP_149162.2:p.Arg979Ser
XM_006719242.2:c.3288A>T	XP_006719305.2:p.Arg1096Ser
XM_011537928.1:c.3288A>T	XP_011536230.1:p.Arg1096Ser
XM_011537929.1:c.3288A>T	XP_011536231.1:p.Arg1096Ser
XM_011537930.1:c.3288A>T	XP_011536232.1:p.Arg1096Ser
XM_011537931.1:c.3288A>T	XP_011536233.1:p.Arg1096Ser
XM_011537932.1:c.3288A>T	XP_011536234.1:p.Arg1096Ser
XM_011537933.1:c.3288A>T	XP_011536235.1:p.Arg1096Ser
XM_011537934.1:c.3285A>T	XP_011536236.1:p.Arg1095Ser
XM_011537935.1:c.2232A>T	XP_011536237.1:p.Arg744Ser
XM_017018828.1:c.3288A>T	XP_016874317.1:p.Arg1096Ser
XM_017018829.1:c.3285A>T	XP_016874318.1:p.Arg1095Ser
XM_017018830.1:c.3078A>T	XP_016874319.1:p.Arg1026Ser
XM_017018831.2:c.2598A>T	XP_016874320.1:p.Arg866Ser
NM_001844.5:c.3144A>T MANE Select	NP_001835.3:p.Arg1048Ser
NM_033150.3:c.2937A>T	NP_149162.2:p.Arg979Ser