Canonical Allele Identifier: CA479696638
Gene: COL2A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.48372083A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47978300A>G , CM000674.2:g.47978300A>G GRCh38
NC_000012.11:g.48372083A>G , CM000674.1:g.48372083A>G GRCh37
NC_000012.10:g.46658350A>G NCBI36
NG_008072.1:g.31203T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000337299.7:c.2787T>C ENSP00000338213.6:p.Pro929=
ENST00000380518.8:c.2994T>C MANE Select ENSP00000369889.3:p.Pro998=
ENST00000337299.6:c.2787T>C ENSP00000338213.6:p.Pro929=
ENST00000380518.7:c.2994T>C ENSP00000369889.3:p.Pro998=
ENST00000493991.5:n.2080T>C
NM_001844.4:c.2994T>C NP_001835.3:p.Pro998=
NM_033150.2:c.2787T>C NP_149162.2:p.Pro929=
XM_006719242.2:c.3138T>C XP_006719305.2:p.Pro1046=
XM_011537928.1:c.3138T>C XP_011536230.1:p.Pro1046=
XM_011537929.1:c.3138T>C XP_011536231.1:p.Pro1046=
XM_011537930.1:c.3138T>C XP_011536232.1:p.Pro1046=
XM_011537931.1:c.3138T>C XP_011536233.1:p.Pro1046=
XM_011537932.1:c.3138T>C XP_011536234.1:p.Pro1046=
XM_011537933.1:c.3138T>C XP_011536235.1:p.Pro1046=
XM_011537934.1:c.3135T>C XP_011536236.1:p.Pro1045=
XM_011537935.1:c.2082T>C XP_011536237.1:p.Pro694=
XM_017018828.1:c.3138T>C XP_016874317.1:p.Pro1046=
XM_017018829.1:c.3135T>C XP_016874318.1:p.Pro1045=
XM_017018830.1:c.2928T>C XP_016874319.1:p.Pro976=
XM_017018831.2:c.2448T>C XP_016874320.1:p.Pro816=
NM_001844.5:c.2994T>C MANE Select NP_001835.3:p.Pro998=
NM_033150.3:c.2787T>C NP_149162.2:p.Pro929=