Canonical Allele Identifier: CA384545445

Gene: COL2A1

Linked Data

• dbSNP Id: rs1259125291
• gnomAD v2: 12-48375573-C-T
• gnomAD v4: 12-47981790-C-T
• MyVariant Identifiers: chr12:g.48375573C>T (hg19) ; chr12:g.47981790C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47981790C>T , CM000674.2:g.47981790C>T	GRCh38
NC_000012.11:g.48375573C>T , CM000674.1:g.48375573C>T	GRCh37
NC_000012.10:g.46661840C>T	NCBI36
NG_008072.1:g.27713G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2188G>A	ENSP00000338213.6:p.Ala730Thr
ENST00000380518.8:c.2395G>A MANE Select	ENSP00000369889.3:p.Ala799Thr
ENST00000337299.6:c.2188G>A	ENSP00000338213.6:p.Ala730Thr
ENST00000380518.7:c.2395G>A	ENSP00000369889.3:p.Ala799Thr
ENST00000483376.1:n.573G>A
ENST00000493991.5:n.1481G>A
NM_001844.4:c.2395G>A	NP_001835.3:p.Ala799Thr
NM_033150.2:c.2188G>A	NP_149162.2:p.Ala730Thr
XM_006719242.2:c.2539G>A	XP_006719305.2:p.Ala847Thr
XM_011537928.1:c.2539G>A	XP_011536230.1:p.Ala847Thr
XM_011537929.1:c.2539G>A	XP_011536231.1:p.Ala847Thr
XM_011537930.1:c.2539G>A	XP_011536232.1:p.Ala847Thr
XM_011537931.1:c.2539G>A	XP_011536233.1:p.Ala847Thr
XM_011537932.1:c.2539G>A	XP_011536234.1:p.Ala847Thr
XM_011537933.1:c.2539G>A	XP_011536235.1:p.Ala847Thr
XM_011537934.1:c.2536G>A	XP_011536236.1:p.Ala846Thr
XM_011537935.1:c.1483G>A	XP_011536237.1:p.Ala495Thr
XR_944910.1:n.208+364C>T
XM_017018828.1:c.2539G>A	XP_016874317.1:p.Ala847Thr
XM_017018829.1:c.2536G>A	XP_016874318.1:p.Ala846Thr
XM_017018830.1:c.2329G>A	XP_016874319.1:p.Ala777Thr
XM_017018831.2:c.1849G>A	XP_016874320.1:p.Ala617Thr
NM_001844.5:c.2395G>A MANE Select	NP_001835.3:p.Ala799Thr
NM_033150.3:c.2188G>A	NP_149162.2:p.Ala730Thr