Canonical Allele Identifier: CA384539795

Gene: COL2A1

Linked Data

• gnomAD v4: 12-47977151-G-T
• MyVariant Identifiers: chr12:g.48370934G>T (hg19) ; chr12:g.47977151G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977151G>T , CM000674.2:g.47977151G>T	GRCh38
NC_000012.11:g.48370934G>T , CM000674.1:g.48370934G>T	GRCh37
NC_000012.10:g.46657201G>T	NCBI36
NG_008072.1:g.32352C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3071C>A	ENSP00000338213.6:p.Ala1024Glu
ENST00000380518.8:c.3278C>A MANE Select	ENSP00000369889.3:p.Ala1093Glu
ENST00000337299.6:c.3071C>A	ENSP00000338213.6:p.Ala1024Glu
ENST00000380518.7:c.3278C>A	ENSP00000369889.3:p.Ala1093Glu
ENST00000493991.5:n.2364C>A
ENST00000546974.1:n.131C>A
NM_001844.4:c.3278C>A	NP_001835.3:p.Ala1093Glu
NM_033150.2:c.3071C>A	NP_149162.2:p.Ala1024Glu
XM_006719242.2:c.3422C>A	XP_006719305.2:p.Ala1141Glu
XM_011537928.1:c.3422C>A	XP_011536230.1:p.Ala1141Glu
XM_011537929.1:c.3422C>A	XP_011536231.1:p.Ala1141Glu
XM_011537930.1:c.3422C>A	XP_011536232.1:p.Ala1141Glu
XM_011537931.1:c.3422C>A	XP_011536233.1:p.Ala1141Glu
XM_011537932.1:c.3422C>A	XP_011536234.1:p.Ala1141Glu
XM_011537933.1:c.3422C>A	XP_011536235.1:p.Ala1141Glu
XM_011537934.1:c.3419C>A	XP_011536236.1:p.Ala1140Glu
XM_011537935.1:c.2366C>A	XP_011536237.1:p.Ala789Glu
XM_017018828.1:c.3422C>A	XP_016874317.1:p.Ala1141Glu
XM_017018829.1:c.3419C>A	XP_016874318.1:p.Ala1140Glu
XM_017018830.1:c.3212C>A	XP_016874319.1:p.Ala1071Glu
XM_017018831.2:c.2732C>A	XP_016874320.1:p.Ala911Glu
NM_001844.5:c.3278C>A MANE Select	NP_001835.3:p.Ala1093Glu
NM_033150.3:c.3071C>A	NP_149162.2:p.Ala1024Glu