Canonical Allele Identifier: CA2034477492

Gene: COL2A1

Linked Data

• dbSNP Id: rs1939814668
• gnomAD v4: 12-47993740-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47993740C>T , CM000674.2:g.47993740C>T	GRCh38
NC_000012.11:g.48387523C>T , CM000674.1:g.48387523C>T	GRCh37
NC_000012.10:g.46673790C>T	NCBI36
NG_008072.1:g.15763G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.717+69G>A	ENSP00000338213.6:n.717+69G>A
ENST00000380518.8:c.924+69G>A MANE Select	ENSP00000369889.3:n.924+69G>A
ENST00000337299.6:c.717+69G>A	ENSP00000338213.6:n.717+69G>A
ENST00000380518.7:c.924+69G>A	ENSP00000369889.3:n.924+69G>A
NM_001844.4:c.924+69G>A	NP_001835.3:n.924+69G>A
NM_033150.2:c.717+69G>A	NP_149162.2:n.717+69G>A
XM_006719242.2:c.1068+69G>A	XP_006719305.2:n.1068+69G>A
XM_011537928.1:c.1068+69G>A	XP_011536230.1:n.1068+69G>A
XM_011537929.1:c.1068+69G>A	XP_011536231.1:n.1068+69G>A
XM_011537930.1:c.1068+69G>A	XP_011536232.1:n.1068+69G>A
XM_011537931.1:c.1068+69G>A	XP_011536233.1:n.1068+69G>A
XM_011537932.1:c.1068+69G>A	XP_011536234.1:n.1068+69G>A
XM_011537933.1:c.1068+69G>A	XP_011536235.1:n.1068+69G>A
XM_011537934.1:c.1065+69G>A	XP_011536236.1:n.1065+69G>A
XM_017018828.1:c.1068+69G>A	XP_016874317.1:n.1068+69G>A
XM_017018829.1:c.1065+69G>A	XP_016874318.1:n.1065+69G>A
XM_017018830.1:c.858+69G>A	XP_016874319.1:n.858+69G>A
XM_017018831.2:c.378+69G>A	XP_016874320.1:n.378+69G>A
NM_001844.5:c.924+69G>A MANE Select	NP_001835.3:n.924+69G>A
NM_033150.3:c.717+69G>A	NP_149162.2:n.717+69G>A