Canonical Allele Identifier: CA604839126

Gene: COL2A1

Linked Data

• dbSNP Id: rs1303950073
• gnomAD v2: 12-48389618-C-T
• gnomAD v3: 12-47995835-C-T
• gnomAD v4: 12-47995835-C-T
• MyVariant Identifiers: chr12:g.48389618C>T (hg19) ; chr12:g.47995835C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47995835C>T , CM000674.2:g.47995835C>T	GRCh38
NC_000012.11:g.48389618C>T , CM000674.1:g.48389618C>T	GRCh37
NC_000012.10:g.46675885C>T	NCBI36
NG_008072.1:g.13668G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.447+40G>A	ENSP00000338213.6:n.447+40G>A
ENST00000380518.8:c.654+40G>A MANE Select	ENSP00000369889.3:n.654+40G>A
ENST00000337299.6:c.447+40G>A	ENSP00000338213.6:n.447+40G>A
ENST00000380518.7:c.654+40G>A	ENSP00000369889.3:n.654+40G>A
NM_001844.4:c.654+40G>A	NP_001835.3:n.654+40G>A
NM_033150.2:c.447+40G>A	NP_149162.2:n.447+40G>A
XM_006719242.2:c.798+40G>A	XP_006719305.2:n.798+40G>A
XM_011537928.1:c.798+40G>A	XP_011536230.1:n.798+40G>A
XM_011537929.1:c.798+40G>A	XP_011536231.1:n.798+40G>A
XM_011537930.1:c.798+40G>A	XP_011536232.1:n.798+40G>A
XM_011537931.1:c.798+40G>A	XP_011536233.1:n.798+40G>A
XM_011537932.1:c.798+40G>A	XP_011536234.1:n.798+40G>A
XM_011537933.1:c.798+40G>A	XP_011536235.1:n.798+40G>A
XM_011537934.1:c.795+40G>A	XP_011536236.1:n.795+40G>A
XM_017018828.1:c.798+40G>A	XP_016874317.1:n.798+40G>A
XM_017018829.1:c.795+40G>A	XP_016874318.1:n.795+40G>A
XM_017018830.1:c.588+40G>A	XP_016874319.1:n.588+40G>A
XM_017018831.2:c.108+40G>A	XP_016874320.1:n.108+40G>A
NM_001844.5:c.654+40G>A MANE Select	NP_001835.3:n.654+40G>A
NM_033150.3:c.447+40G>A	NP_149162.2:n.447+40G>A