Canonical Allele Identifier: CA384551529

Gene: COL2A1

Linked Data

• MyVariant Identifiers: chr12:g.48379548G>A (hg19) ; chr12:g.47985765G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47985765G>A , CM000674.2:g.47985765G>A	GRCh38
NC_000012.11:g.48379548G>A , CM000674.1:g.48379548G>A	GRCh37
NC_000012.10:g.46665815G>A	NCBI36
NG_008072.1:g.23738C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.1436C>T	ENSP00000338213.6:p.Pro479Leu
ENST00000380518.8:c.1643C>T MANE Select	ENSP00000369889.3:p.Pro548Leu
ENST00000337299.6:c.1436C>T	ENSP00000338213.6:p.Pro479Leu
ENST00000380518.7:c.1643C>T	ENSP00000369889.3:p.Pro548Leu
ENST00000493991.5:n.567C>T
NM_001844.4:c.1643C>T	NP_001835.3:p.Pro548Leu
NM_033150.2:c.1436C>T	NP_149162.2:p.Pro479Leu
XM_006719242.2:c.1787C>T	XP_006719305.2:p.Pro596Leu
XM_011537928.1:c.1787C>T	XP_011536230.1:p.Pro596Leu
XM_011537929.1:c.1787C>T	XP_011536231.1:p.Pro596Leu
XM_011537930.1:c.1787C>T	XP_011536232.1:p.Pro596Leu
XM_011537931.1:c.1787C>T	XP_011536233.1:p.Pro596Leu
XM_011537932.1:c.1787C>T	XP_011536234.1:p.Pro596Leu
XM_011537933.1:c.1787C>T	XP_011536235.1:p.Pro596Leu
XM_011537934.1:c.1784C>T	XP_011536236.1:p.Pro595Leu
XM_011537935.1:c.731C>T	XP_011536237.1:p.Pro244Leu
XM_017018828.1:c.1787C>T	XP_016874317.1:p.Pro596Leu
XM_017018829.1:c.1784C>T	XP_016874318.1:p.Pro595Leu
XM_017018830.1:c.1577C>T	XP_016874319.1:p.Pro526Leu
XM_017018831.2:c.1097C>T	XP_016874320.1:p.Pro366Leu
NM_001844.5:c.1643C>T MANE Select	NP_001835.3:p.Pro548Leu
NM_033150.3:c.1436C>T	NP_149162.2:p.Pro479Leu