Canonical Allele Identifier: CA384540905

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 3022787
• ClinVar RCV Id: RCV003881973
• dbSNP Id: rs1938822705
• gnomAD v4: 12-47978093-G-T
• MyVariant Identifiers: chr12:g.48371876G>T (hg19) ; chr12:g.47978093G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47978093G>T , CM000674.2:g.47978093G>T	GRCh38
NC_000012.11:g.48371876G>T , CM000674.1:g.48371876G>T	GRCh37
NC_000012.10:g.46658143G>T	NCBI36
NG_008072.1:g.31410C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.2821C>A	ENSP00000338213.6:p.Pro941Thr
ENST00000380518.8:c.3028C>A MANE Select	ENSP00000369889.3:p.Pro1010Thr
ENST00000337299.6:c.2821C>A	ENSP00000338213.6:p.Pro941Thr
ENST00000380518.7:c.3028C>A	ENSP00000369889.3:p.Pro1010Thr
ENST00000493991.5:n.2114C>A
NM_001844.4:c.3028C>A	NP_001835.3:p.Pro1010Thr
NM_033150.2:c.2821C>A	NP_149162.2:p.Pro941Thr
XM_006719242.2:c.3172C>A	XP_006719305.2:p.Pro1058Thr
XM_011537928.1:c.3172C>A	XP_011536230.1:p.Pro1058Thr
XM_011537929.1:c.3172C>A	XP_011536231.1:p.Pro1058Thr
XM_011537930.1:c.3172C>A	XP_011536232.1:p.Pro1058Thr
XM_011537931.1:c.3172C>A	XP_011536233.1:p.Pro1058Thr
XM_011537932.1:c.3172C>A	XP_011536234.1:p.Pro1058Thr
XM_011537933.1:c.3172C>A	XP_011536235.1:p.Pro1058Thr
XM_011537934.1:c.3169C>A	XP_011536236.1:p.Pro1057Thr
XM_011537935.1:c.2116C>A	XP_011536237.1:p.Pro706Thr
XM_017018828.1:c.3172C>A	XP_016874317.1:p.Pro1058Thr
XM_017018829.1:c.3169C>A	XP_016874318.1:p.Pro1057Thr
XM_017018830.1:c.2962C>A	XP_016874319.1:p.Pro988Thr
XM_017018831.2:c.2482C>A	XP_016874320.1:p.Pro828Thr
NM_001844.5:c.3028C>A MANE Select	NP_001835.3:p.Pro1010Thr
NM_033150.3:c.2821C>A	NP_149162.2:p.Pro941Thr