Canonical Allele Identifier: CA689461374

Gene: COL2A1

Linked Data

• dbSNP Id: rs1375673352
• gnomAD v3: 12-47973094-C-G
• gnomAD v4: 12-47973094-C-G
• MyVariant Identifiers: chr12:g.48366877C>G (hg19) ; chr12:g.47973094C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47973094C>G , CM000674.2:g.47973094C>G	GRCh38
NC_000012.11:g.48366877C>G , CM000674.1:g.48366877C>G	GRCh37
NC_000012.10:g.46653144C>G	NCBI36
NG_008072.1:g.36409G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380518.8:c.*313G>C MANE Select	ENSP00000369889.3:n.*313G>C
ENST00000380518.7:c.*313G>C	ENSP00000369889.3:n.*313G>C
NM_001844.4:c.*313G>C	NP_001835.3:n.*313G>C
NM_033150.2:c.*313G>C	NP_149162.2:n.*313G>C
XM_006719242.2:c.*313G>C	XP_006719305.2:n.*313G>C
XM_011537928.1:c.*313G>C	XP_011536230.1:n.*313G>C
XM_011537929.1:c.*313G>C	XP_011536231.1:n.*313G>C
XM_011537930.1:c.*313G>C	XP_011536232.1:n.*313G>C
XM_011537931.1:c.*313G>C	XP_011536233.1:n.*313G>C
XM_011537932.1:c.*313G>C	XP_011536234.1:n.*313G>C
XM_011537933.1:c.*313G>C	XP_011536235.1:n.*313G>C
XM_011537934.1:c.*313G>C	XP_011536236.1:n.*313G>C
XM_011537935.1:c.*313G>C	XP_011536237.1:n.*313G>C
XM_017018828.1:c.*313G>C	XP_016874317.1:n.*313G>C
XM_017018829.1:c.*313G>C	XP_016874318.1:n.*313G>C
XM_017018830.1:c.*313G>C	XP_016874319.1:n.*313G>C
XM_017018831.2:c.*313G>C	XP_016874320.1:n.*313G>C
NM_001844.5:c.*313G>C MANE Select	NP_001835.3:n.*313G>C
NM_033150.3:c.*313G>C	NP_149162.2:n.*313G>C