Canonical Allele Identifier: CA6534839

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 2067848
• ClinVar RCV Id: RCV002970702
• dbSNP Id: rs746255869
• ExAC: 12:48371170 G / T
• gnomAD v2: 12-48371170-G-T
• gnomAD v3: 12-47977387-G-T
• gnomAD v4: 12-47977387-G-T
• MyVariant Identifiers: chr12:g.48371170G>T (hg19) ; chr12:g.47977387G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977387G>T , CM000674.2:g.47977387G>T	GRCh38
NC_000012.11:g.48371170G>T , CM000674.1:g.48371170G>T	GRCh37
NC_000012.10:g.46657437G>T	NCBI36
NG_008072.1:g.32116C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2999C>A	ENSP00000338213.6:p.Ala1000Asp
ENST00000380518.8:c.3206C>A MANE Select	ENSP00000369889.3:p.Ala1069Asp
ENST00000337299.6:c.2999C>A	ENSP00000338213.6:p.Ala1000Asp
ENST00000380518.7:c.3206C>A	ENSP00000369889.3:p.Ala1069Asp
ENST00000493991.5:n.2292C>A
ENST00000546974.1:n.59C>A
NM_001844.4:c.3206C>A	NP_001835.3:p.Ala1069Asp
NM_033150.2:c.2999C>A	NP_149162.2:p.Ala1000Asp
XM_006719242.2:c.3350C>A	XP_006719305.2:p.Ala1117Asp
XM_011537928.1:c.3350C>A	XP_011536230.1:p.Ala1117Asp
XM_011537929.1:c.3350C>A	XP_011536231.1:p.Ala1117Asp
XM_011537930.1:c.3350C>A	XP_011536232.1:p.Ala1117Asp
XM_011537931.1:c.3350C>A	XP_011536233.1:p.Ala1117Asp
XM_011537932.1:c.3350C>A	XP_011536234.1:p.Ala1117Asp
XM_011537933.1:c.3350C>A	XP_011536235.1:p.Ala1117Asp
XM_011537934.1:c.3347C>A	XP_011536236.1:p.Ala1116Asp
XM_011537935.1:c.2294C>A	XP_011536237.1:p.Ala765Asp
XM_017018828.1:c.3350C>A	XP_016874317.1:p.Ala1117Asp
XM_017018829.1:c.3347C>A	XP_016874318.1:p.Ala1116Asp
XM_017018830.1:c.3140C>A	XP_016874319.1:p.Ala1047Asp
XM_017018831.2:c.2660C>A	XP_016874320.1:p.Ala887Asp
NM_001844.5:c.3206C>A MANE Select	NP_001835.3:p.Ala1069Asp
NM_033150.3:c.2999C>A	NP_149162.2:p.Ala1000Asp