Canonical Allele Identifier: CA6535495

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 308927
• ClinVar RCV Id: RCV000269517 ; RCV000364110 ; RCV000659392 ; RCV001398631
• dbSNP Id: rs200984998
• ExAC: 12:48380684 G / T
• gnomAD v2: 12-48380684-G-T
• gnomAD v3: 12-47986901-G-T
• gnomAD v4: 12-47986901-G-T
• MyVariant Identifiers: chr12:g.48380684G>T (hg19) ; chr12:g.47986901G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47986901G>T , CM000674.2:g.47986901G>T	GRCh38
NC_000012.11:g.48380684G>T , CM000674.1:g.48380684G>T	GRCh37
NC_000012.10:g.46666951G>T	NCBI36
NG_008072.1:g.22602C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.1159-13C>A	ENSP00000338213.6:n.1159-13C>A
ENST00000380518.8:c.1366-13C>A MANE Select	ENSP00000369889.3:n.1366-13C>A
ENST00000337299.6:c.1159-13C>A	ENSP00000338213.6:n.1159-13C>A
ENST00000380518.7:c.1366-13C>A	ENSP00000369889.3:n.1366-13C>A
ENST00000493991.5:n.290-13C>A
NM_001844.4:c.1366-13C>A	NP_001835.3:n.1366-13C>A
NM_033150.2:c.1159-13C>A	NP_149162.2:n.1159-13C>A
XM_006719242.2:c.1510-13C>A	XP_006719305.2:n.1510-13C>A
XM_011537928.1:c.1510-13C>A	XP_011536230.1:n.1510-13C>A
XM_011537929.1:c.1510-13C>A	XP_011536231.1:n.1510-13C>A
XM_011537930.1:c.1510-13C>A	XP_011536232.1:n.1510-13C>A
XM_011537931.1:c.1510-13C>A	XP_011536233.1:n.1510-13C>A
XM_011537932.1:c.1510-13C>A	XP_011536234.1:n.1510-13C>A
XM_011537933.1:c.1510-13C>A	XP_011536235.1:n.1510-13C>A
XM_011537934.1:c.1507-13C>A	XP_011536236.1:n.1507-13C>A
XM_011537935.1:c.454-13C>A	XP_011536237.1:n.454-13C>A
XM_017018828.1:c.1510-13C>A	XP_016874317.1:n.1510-13C>A
XM_017018829.1:c.1507-13C>A	XP_016874318.1:n.1507-13C>A
XM_017018830.1:c.1300-13C>A	XP_016874319.1:n.1300-13C>A
XM_017018831.2:c.820-13C>A	XP_016874320.1:n.820-13C>A
NM_001844.5:c.1366-13C>A MANE Select	NP_001835.3:n.1366-13C>A
NM_033150.3:c.1159-13C>A	NP_149162.2:n.1159-13C>A