Canonical Allele Identifier: CA6535660

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 508187
• ClinVar RCV Id: RCV001112956 ; RCV001112957 ; RCV001697443
• dbSNP Id: rs374570848
• ExAC: 12:48386658 C / T
• gnomAD v2: 12-48386658-C-T
• gnomAD v3: 12-47992875-C-T
• gnomAD v4: 12-47992875-C-T
• MyVariant Identifiers: chr12:g.48386658C>T (hg19) ; chr12:g.47992875C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47992875C>T , CM000674.2:g.47992875C>T	GRCh38
NC_000012.11:g.48386658C>T , CM000674.1:g.48386658C>T	GRCh37
NC_000012.10:g.46672925C>T	NCBI36
NG_008072.1:g.16628G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.816+3G>A	ENSP00000338213.6:n.816+3G>A
ENST00000380518.8:c.1023+3G>A MANE Select	ENSP00000369889.3:n.1023+3G>A
ENST00000337299.6:c.816+3G>A	ENSP00000338213.6:n.816+3G>A
ENST00000380518.7:c.1023+3G>A	ENSP00000369889.3:n.1023+3G>A
NM_001844.4:c.1023+3G>A	NP_001835.3:n.1023+3G>A
NM_033150.2:c.816+3G>A	NP_149162.2:n.816+3G>A
XM_006719242.2:c.1167+3G>A	XP_006719305.2:n.1167+3G>A
XM_011537928.1:c.1167+3G>A	XP_011536230.1:n.1167+3G>A
XM_011537929.1:c.1167+3G>A	XP_011536231.1:n.1167+3G>A
XM_011537930.1:c.1167+3G>A	XP_011536232.1:n.1167+3G>A
XM_011537931.1:c.1167+3G>A	XP_011536233.1:n.1167+3G>A
XM_011537932.1:c.1167+3G>A	XP_011536234.1:n.1167+3G>A
XM_011537933.1:c.1167+3G>A	XP_011536235.1:n.1167+3G>A
XM_011537934.1:c.1164+3G>A	XP_011536236.1:n.1164+3G>A
XM_017018828.1:c.1167+3G>A	XP_016874317.1:n.1167+3G>A
XM_017018829.1:c.1164+3G>A	XP_016874318.1:n.1164+3G>A
XM_017018830.1:c.957+3G>A	XP_016874319.1:n.957+3G>A
XM_017018831.2:c.477+3G>A	XP_016874320.1:n.477+3G>A
NM_001844.5:c.1023+3G>A MANE Select	NP_001835.3:n.1023+3G>A
NM_033150.3:c.816+3G>A	NP_149162.2:n.816+3G>A