Canonical Allele Identifier: CA604850545

Gene: COL2A1

Linked Data

• dbSNP Id: rs776692009
• gnomAD v2: 12-48376592-G-A
• gnomAD v4: 12-47982809-G-A
• MyVariant Identifiers: chr12:g.48376592G>A (hg19) ; chr12:g.47982809G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47982809G>A , CM000674.2:g.47982809G>A	GRCh38
NC_000012.11:g.48376592G>A , CM000674.1:g.48376592G>A	GRCh37
NC_000012.10:g.46662859G>A	NCBI36
NG_008072.1:g.26694C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.1986+39C>T	ENSP00000338213.6:n.1986+39C>T
ENST00000380518.8:c.2193+39C>T MANE Select	ENSP00000369889.3:n.2193+39C>T
ENST00000337299.6:c.1986+39C>T	ENSP00000338213.6:n.1986+39C>T
ENST00000380518.7:c.2193+39C>T	ENSP00000369889.3:n.2193+39C>T
ENST00000483376.1:n.371+39C>T
ENST00000493991.5:n.1117+39C>T
NM_001844.4:c.2193+39C>T	NP_001835.3:n.2193+39C>T
NM_033150.2:c.1986+39C>T	NP_149162.2:n.1986+39C>T
XM_006719242.2:c.2337+39C>T	XP_006719305.2:n.2337+39C>T
XM_011537928.1:c.2337+39C>T	XP_011536230.1:n.2337+39C>T
XM_011537929.1:c.2337+39C>T	XP_011536231.1:n.2337+39C>T
XM_011537930.1:c.2337+39C>T	XP_011536232.1:n.2337+39C>T
XM_011537931.1:c.2337+39C>T	XP_011536233.1:n.2337+39C>T
XM_011537932.1:c.2337+39C>T	XP_011536234.1:n.2337+39C>T
XM_011537933.1:c.2337+39C>T	XP_011536235.1:n.2337+39C>T
XM_011537934.1:c.2334+39C>T	XP_011536236.1:n.2334+39C>T
XM_011537935.1:c.1281+39C>T	XP_011536237.1:n.1281+39C>T
XR_944910.1:n.281G>A
XM_017018828.1:c.2337+39C>T	XP_016874317.1:n.2337+39C>T
XM_017018829.1:c.2334+39C>T	XP_016874318.1:n.2334+39C>T
XM_017018830.1:c.2127+39C>T	XP_016874319.1:n.2127+39C>T
XM_017018831.2:c.1647+39C>T	XP_016874320.1:n.1647+39C>T
NM_001844.5:c.2193+39C>T MANE Select	NP_001835.3:n.2193+39C>T
NM_033150.3:c.1986+39C>T	NP_149162.2:n.1986+39C>T