Canonical Allele Identifier: CA522803002

Gene: COL9A2

Linked Data

• dbSNP Id: rs372902486
• gnomAD v2: 1-40767061-C-T
• gnomAD v3: 1-40301389-C-T
• gnomAD v4: 1-40301389-C-T
• MyVariant Identifiers: chr1:g.40767061C>T (hg19) ; chr1:g.40301389C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40301389C>T , CM000663.2:g.40301389C>T	GRCh38
NC_000001.10:g.40767061C>T , CM000663.1:g.40767061C>T	GRCh37
NC_000001.9:g.40539648C>T	NCBI36
NG_008031.1:g.20879G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372748.8:c.1871-8G>A MANE Select	ENSP00000361834.3:n.1871-8G>A
ENST00000372748.7:c.1871-8G>A	ENSP00000361834.3:n.1871-8G>A
ENST00000482722.5:n.2174-8G>A
NM_001852.3:c.1871-8G>A	NP_001843.1:n.1871-8G>A
XM_006710365.2:c.1871-8G>A	XP_006710428.1:n.1871-8G>A
XM_011540714.1:c.1883-8G>A	XP_011539016.1:n.1883-8G>A
XM_011540715.1:c.1601-8G>A	XP_011539017.1:n.1601-8G>A
XM_011540716.1:c.1601-8G>A	XP_011539018.1:n.1601-8G>A
XM_011540717.1:c.1328-8G>A	XP_011539019.1:n.1328-8G>A
XM_006710365.3:c.1871-8G>A	XP_006710428.1:n.1871-8G>A
XM_011540715.2:c.1601-8G>A	XP_011539017.1:n.1601-8G>A
XM_011540716.2:c.1601-8G>A	XP_011539018.1:n.1601-8G>A
XM_011540717.2:c.1328-8G>A	XP_011539019.1:n.1328-8G>A
XM_017000332.1:c.1883-8G>A	XP_016855821.1:n.1883-8G>A
XM_017000333.1:c.1589-8G>A	XP_016855822.1:n.1589-8G>A
NM_001852.4:c.1871-8G>A MANE Select	NP_001843.1:n.1871-8G>A