Canonical Allele Identifier: CA384545439

Gene: COL2A1

Linked Data

• dbSNP Id: rs1202431343
• gnomAD v2: 12-48375572-G-A
• gnomAD v4: 12-47981789-G-A
• MyVariant Identifiers: chr12:g.48375572G>A (hg19) ; chr12:g.47981789G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47981789G>A , CM000674.2:g.47981789G>A	GRCh38
NC_000012.11:g.48375572G>A , CM000674.1:g.48375572G>A	GRCh37
NC_000012.10:g.46661839G>A	NCBI36
NG_008072.1:g.27714C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.2189C>T	ENSP00000338213.6:p.Ala730Val
ENST00000380518.8:c.2396C>T MANE Select	ENSP00000369889.3:p.Ala799Val
ENST00000337299.6:c.2189C>T	ENSP00000338213.6:p.Ala730Val
ENST00000380518.7:c.2396C>T	ENSP00000369889.3:p.Ala799Val
ENST00000483376.1:n.574C>T
ENST00000493991.5:n.1482C>T
NM_001844.4:c.2396C>T	NP_001835.3:p.Ala799Val
NM_033150.2:c.2189C>T	NP_149162.2:p.Ala730Val
XM_006719242.2:c.2540C>T	XP_006719305.2:p.Ala847Val
XM_011537928.1:c.2540C>T	XP_011536230.1:p.Ala847Val
XM_011537929.1:c.2540C>T	XP_011536231.1:p.Ala847Val
XM_011537930.1:c.2540C>T	XP_011536232.1:p.Ala847Val
XM_011537931.1:c.2540C>T	XP_011536233.1:p.Ala847Val
XM_011537932.1:c.2540C>T	XP_011536234.1:p.Ala847Val
XM_011537933.1:c.2540C>T	XP_011536235.1:p.Ala847Val
XM_011537934.1:c.2537C>T	XP_011536236.1:p.Ala846Val
XM_011537935.1:c.1484C>T	XP_011536237.1:p.Ala495Val
XR_944910.1:n.208+363G>A
XM_017018828.1:c.2540C>T	XP_016874317.1:p.Ala847Val
XM_017018829.1:c.2537C>T	XP_016874318.1:p.Ala846Val
XM_017018830.1:c.2330C>T	XP_016874319.1:p.Ala777Val
XM_017018831.2:c.1850C>T	XP_016874320.1:p.Ala617Val
NM_001844.5:c.2396C>T MANE Select	NP_001835.3:p.Ala799Val
NM_033150.3:c.2189C>T	NP_149162.2:p.Ala730Val