Canonical Allele Identifier: CA250663
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17352
ClinVar RCV Id: RCV000018895
dbSNP Id: rs121912864
MyVariant Identifiers: chr12:g.48371156C>T (hg19) chr12:g.47977373C>T (hg38)
PubMed: PMID:2572591 PMID:3195588
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47977373C>T , CM000674.2:g.47977373C>T GRCh38
NC_000012.11:g.48371156C>T , CM000674.1:g.48371156C>T GRCh37
NC_000012.10:g.46657423C>T NCBI36
NG_008072.1:g.32130G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000337299.7:c.3013G>A ENSP00000338213.6:p.Gly1005Ser
ENST00000380518.8:c.3220G>A MANE Select ENSP00000369889.3:p.Gly1074Ser
ENST00000337299.6:c.3013G>A ENSP00000338213.6:p.Gly1005Ser
ENST00000380518.7:c.3220G>A ENSP00000369889.3:p.Gly1074Ser
ENST00000493991.5:n.2306G>A
ENST00000546974.1:n.73G>A
NM_001844.4:c.3220G>A NP_001835.3:p.Gly1074Ser
NM_033150.2:c.3013G>A NP_149162.2:p.Gly1005Ser
XM_006719242.2:c.3364G>A XP_006719305.2:p.Gly1122Ser
XM_011537928.1:c.3364G>A XP_011536230.1:p.Gly1122Ser
XM_011537929.1:c.3364G>A XP_011536231.1:p.Gly1122Ser
XM_011537930.1:c.3364G>A XP_011536232.1:p.Gly1122Ser
XM_011537931.1:c.3364G>A XP_011536233.1:p.Gly1122Ser
XM_011537932.1:c.3364G>A XP_011536234.1:p.Gly1122Ser
XM_011537933.1:c.3364G>A XP_011536235.1:p.Gly1122Ser
XM_011537934.1:c.3361G>A XP_011536236.1:p.Gly1121Ser
XM_011537935.1:c.2308G>A XP_011536237.1:p.Gly770Ser
XM_017018828.1:c.3364G>A XP_016874317.1:p.Gly1122Ser
XM_017018829.1:c.3361G>A XP_016874318.1:p.Gly1121Ser
XM_017018830.1:c.3154G>A XP_016874319.1:p.Gly1052Ser
XM_017018831.2:c.2674G>A XP_016874320.1:p.Gly892Ser
NM_001844.5:c.3220G>A MANE Select NP_001835.3:p.Gly1074Ser
NM_033150.3:c.3013G>A NP_149162.2:p.Gly1005Ser
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