Canonical Allele Identifier: CA236494993

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 959020
• ClinVar RCV Id: RCV001232295
• dbSNP Id: rs945234297
• gnomAD v2: 12-48393843-G-A
• gnomAD v3: 12-48000060-G-A
• gnomAD v4: 12-48000060-G-A
• MyVariant Identifiers: chr12:g.48393843G>A (hg19) ; chr12:g.48000060G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.48000060G>A , CM000674.2:g.48000060G>A	GRCh38
NC_000012.11:g.48393843G>A , CM000674.1:g.48393843G>A	GRCh37
NC_000012.10:g.46680110G>A	NCBI36
NG_008072.1:g.9443C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.86-1629C>T	ENSP00000338213.6:n.86-1629C>T
ENST00000380518.8:c.151C>T MANE Select	ENSP00000369889.3:p.Pro51Ser
ENST00000490609.2:n.384C>T
ENST00000337299.6:c.86-1629C>T	ENSP00000338213.6:n.86-1629C>T
ENST00000380518.7:c.151C>T	ENSP00000369889.3:p.Pro51Ser
ENST00000474996.6:n.389C>T
ENST00000490609.1:n.316C>T
NM_001844.4:c.151C>T	NP_001835.3:p.Pro51Ser
NM_033150.2:c.86-1629C>T	NP_149162.2:n.86-1629C>T
XM_006719242.2:c.292C>T	XP_006719305.2:p.Pro98Ser
XM_011537928.1:c.292C>T	XP_011536230.1:p.Pro98Ser
XM_011537929.1:c.292C>T	XP_011536231.1:p.Pro98Ser
XM_011537930.1:c.292C>T	XP_011536232.1:p.Pro98Ser
XM_011537931.1:c.292C>T	XP_011536233.1:p.Pro98Ser
XM_011537932.1:c.292C>T	XP_011536234.1:p.Pro98Ser
XM_011537933.1:c.292C>T	XP_011536235.1:p.Pro98Ser
XM_011537934.1:c.292C>T	XP_011536236.1:p.Pro98Ser
XM_017018828.1:c.292C>T	XP_016874317.1:p.Pro98Ser
XM_017018829.1:c.292C>T	XP_016874318.1:p.Pro98Ser
XM_017018830.1:c.227-1629C>T	XP_016874319.1:n.227-1629C>T
XM_017018831.2:c.-396C>T	XP_016874320.1:n.-396C>T
NM_001844.5:c.151C>T MANE Select	NP_001835.3:p.Pro51Ser
NM_033150.3:c.86-1629C>T	NP_149162.2:n.86-1629C>T