Canonical Allele Identifier: CA384541325

Gene: COL2A1

Linked Data

• dbSNP Id: rs1252164163
• gnomAD v2: 12-48372129-A-G
• gnomAD v4: 12-47978346-A-G
• MyVariant Identifiers: chr12:g.48372129A>G (hg19) ; chr12:g.47978346A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47978346A>G , CM000674.2:g.47978346A>G	GRCh38
NC_000012.11:g.48372129A>G , CM000674.1:g.48372129A>G	GRCh37
NC_000012.10:g.46658396A>G	NCBI36
NG_008072.1:g.31157T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2741T>C	ENSP00000338213.6:p.Val914Ala
ENST00000380518.8:c.2948T>C MANE Select	ENSP00000369889.3:p.Val983Ala
ENST00000337299.6:c.2741T>C	ENSP00000338213.6:p.Val914Ala
ENST00000380518.7:c.2948T>C	ENSP00000369889.3:p.Val983Ala
ENST00000493991.5:n.2034T>C
NM_001844.4:c.2948T>C	NP_001835.3:p.Val983Ala
NM_033150.2:c.2741T>C	NP_149162.2:p.Val914Ala
XM_006719242.2:c.3092T>C	XP_006719305.2:p.Val1031Ala
XM_011537928.1:c.3092T>C	XP_011536230.1:p.Val1031Ala
XM_011537929.1:c.3092T>C	XP_011536231.1:p.Val1031Ala
XM_011537930.1:c.3092T>C	XP_011536232.1:p.Val1031Ala
XM_011537931.1:c.3092T>C	XP_011536233.1:p.Val1031Ala
XM_011537932.1:c.3092T>C	XP_011536234.1:p.Val1031Ala
XM_011537933.1:c.3092T>C	XP_011536235.1:p.Val1031Ala
XM_011537934.1:c.3089T>C	XP_011536236.1:p.Val1030Ala
XM_011537935.1:c.2036T>C	XP_011536237.1:p.Val679Ala
XM_017018828.1:c.3092T>C	XP_016874317.1:p.Val1031Ala
XM_017018829.1:c.3089T>C	XP_016874318.1:p.Val1030Ala
XM_017018830.1:c.2882T>C	XP_016874319.1:p.Val961Ala
XM_017018831.2:c.2402T>C	XP_016874320.1:p.Val801Ala
NM_001844.5:c.2948T>C MANE Select	NP_001835.3:p.Val983Ala
NM_033150.3:c.2741T>C	NP_149162.2:p.Val914Ala