Canonical Allele Identifier: CA6535779

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 308931
• ClinVar RCV Id: RCV000296689 ; RCV000351659 ; RCV000763850 ; RCV000976095 ; RCV004537733
• dbSNP Id: rs142770543
• ExAC: 12:48388220 G / A
• gnomAD v2: 12-48388220-G-A
• gnomAD v3: 12-47994437-G-A
• gnomAD v4: 12-47994437-G-A
• MyVariant Identifiers: chr12:g.48388220G>A (hg19) ; chr12:g.47994437G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47994437G>A , CM000674.2:g.47994437G>A	GRCh38
NC_000012.11:g.48388220G>A , CM000674.1:g.48388220G>A	GRCh37
NC_000012.10:g.46674487G>A	NCBI36
NG_008072.1:g.15066C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.596C>T	ENSP00000338213.6:p.Pro199Leu
ENST00000380518.8:c.803C>T MANE Select	ENSP00000369889.3:p.Pro268Leu
ENST00000337299.6:c.596C>T	ENSP00000338213.6:p.Pro199Leu
ENST00000380518.7:c.803C>T	ENSP00000369889.3:p.Pro268Leu
NM_001844.4:c.803C>T	NP_001835.3:p.Pro268Leu
NM_033150.2:c.596C>T	NP_149162.2:p.Pro199Leu
XM_006719242.2:c.947C>T	XP_006719305.2:p.Pro316Leu
XM_011537928.1:c.947C>T	XP_011536230.1:p.Pro316Leu
XM_011537929.1:c.947C>T	XP_011536231.1:p.Pro316Leu
XM_011537930.1:c.947C>T	XP_011536232.1:p.Pro316Leu
XM_011537931.1:c.947C>T	XP_011536233.1:p.Pro316Leu
XM_011537932.1:c.947C>T	XP_011536234.1:p.Pro316Leu
XM_011537933.1:c.947C>T	XP_011536235.1:p.Pro316Leu
XM_011537934.1:c.944C>T	XP_011536236.1:p.Pro315Leu
XM_017018828.1:c.947C>T	XP_016874317.1:p.Pro316Leu
XM_017018829.1:c.944C>T	XP_016874318.1:p.Pro315Leu
XM_017018830.1:c.737C>T	XP_016874319.1:p.Pro246Leu
XM_017018831.2:c.257C>T	XP_016874320.1:p.Pro86Leu
NM_001844.5:c.803C>T MANE Select	NP_001835.3:p.Pro268Leu
NM_033150.3:c.596C>T	NP_149162.2:p.Pro199Leu