Canonical Allele Identifier: CA235882
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 191036
ClinVar RCV Id: RCV000171212
dbSNP Id: rs786205477
MyVariant Identifiers: chr12:g.48371146C>A (hg19) chr12:g.47977363C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47977363C>A , CM000674.2:g.47977363C>A GRCh38
NC_000012.11:g.48371146C>A , CM000674.1:g.48371146C>A GRCh37
NC_000012.10:g.46657413C>A NCBI36
NG_008072.1:g.32140G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000337299.7:c.3023G>T ENSP00000338213.6:p.Gly1008Val
ENST00000380518.8:c.3230G>T MANE Select ENSP00000369889.3:p.Gly1077Val
ENST00000337299.6:c.3023G>T ENSP00000338213.6:p.Gly1008Val
ENST00000380518.7:c.3230G>T ENSP00000369889.3:p.Gly1077Val
ENST00000493991.5:n.2316G>T
ENST00000546974.1:n.83G>T
NM_001844.4:c.3230G>T NP_001835.3:p.Gly1077Val
NM_033150.2:c.3023G>T NP_149162.2:p.Gly1008Val
XM_006719242.2:c.3374G>T XP_006719305.2:p.Gly1125Val
XM_011537928.1:c.3374G>T XP_011536230.1:p.Gly1125Val
XM_011537929.1:c.3374G>T XP_011536231.1:p.Gly1125Val
XM_011537930.1:c.3374G>T XP_011536232.1:p.Gly1125Val
XM_011537931.1:c.3374G>T XP_011536233.1:p.Gly1125Val
XM_011537932.1:c.3374G>T XP_011536234.1:p.Gly1125Val
XM_011537933.1:c.3374G>T XP_011536235.1:p.Gly1125Val
XM_011537934.1:c.3371G>T XP_011536236.1:p.Gly1124Val
XM_011537935.1:c.2318G>T XP_011536237.1:p.Gly773Val
XM_017018828.1:c.3374G>T XP_016874317.1:p.Gly1125Val
XM_017018829.1:c.3371G>T XP_016874318.1:p.Gly1124Val
XM_017018830.1:c.3164G>T XP_016874319.1:p.Gly1055Val
XM_017018831.2:c.2684G>T XP_016874320.1:p.Gly895Val
NM_001844.5:c.3230G>T MANE Select NP_001835.3:p.Gly1077Val
NM_033150.3:c.3023G>T NP_149162.2:p.Gly1008Val
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