Canonical Allele Identifier: CA605231748

Gene: COL2A1

Linked Data

• dbSNP Id: rs1464939018
• gnomAD v2: 12-48379457-C-A
• gnomAD v3: 12-47985674-C-A
• gnomAD v4: 12-47985674-C-A
• MyVariant Identifiers: chr12:g.48379457C>A (hg19) ; chr12:g.47985674C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47985674C>A , CM000674.2:g.47985674C>A	GRCh38
NC_000012.11:g.48379457C>A , CM000674.1:g.48379457C>A	GRCh37
NC_000012.10:g.46665724C>A	NCBI36
NG_008072.1:g.23829G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.1473+54G>T	ENSP00000338213.6:n.1473+54G>T
ENST00000380518.8:c.1680+54G>T MANE Select	ENSP00000369889.3:n.1680+54G>T
ENST00000337299.6:c.1473+54G>T	ENSP00000338213.6:n.1473+54G>T
ENST00000380518.7:c.1680+54G>T	ENSP00000369889.3:n.1680+54G>T
ENST00000493991.5:n.604+54G>T
NM_001844.4:c.1680+54G>T	NP_001835.3:n.1680+54G>T
NM_033150.2:c.1473+54G>T	NP_149162.2:n.1473+54G>T
XM_006719242.2:c.1824+54G>T	XP_006719305.2:n.1824+54G>T
XM_011537928.1:c.1824+54G>T	XP_011536230.1:n.1824+54G>T
XM_011537929.1:c.1824+54G>T	XP_011536231.1:n.1824+54G>T
XM_011537930.1:c.1824+54G>T	XP_011536232.1:n.1824+54G>T
XM_011537931.1:c.1824+54G>T	XP_011536233.1:n.1824+54G>T
XM_011537932.1:c.1824+54G>T	XP_011536234.1:n.1824+54G>T
XM_011537933.1:c.1824+54G>T	XP_011536235.1:n.1824+54G>T
XM_011537934.1:c.1821+54G>T	XP_011536236.1:n.1821+54G>T
XM_011537935.1:c.768+54G>T	XP_011536237.1:n.768+54G>T
XM_017018828.1:c.1824+54G>T	XP_016874317.1:n.1824+54G>T
XM_017018829.1:c.1821+54G>T	XP_016874318.1:n.1821+54G>T
XM_017018830.1:c.1614+54G>T	XP_016874319.1:n.1614+54G>T
XM_017018831.2:c.1134+54G>T	XP_016874320.1:n.1134+54G>T
NM_001844.5:c.1680+54G>T MANE Select	NP_001835.3:n.1680+54G>T
NM_033150.3:c.1473+54G>T	NP_149162.2:n.1473+54G>T