Canonical Allele Identifier: CA384552184

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 1879233
• ClinVar RCV Id: RCV002511732
• MyVariant Identifiers: chr12:g.48379735T>G (hg19) ; chr12:g.47985952T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47985952T>G , CM000674.2:g.47985952T>G	GRCh38
NC_000012.11:g.48379735T>G , CM000674.1:g.48379735T>G	GRCh37
NC_000012.10:g.46666002T>G	NCBI36
NG_008072.1:g.23551A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.1334A>C	ENSP00000338213.6:p.Asn445Thr
ENST00000380518.8:c.1541A>C MANE Select	ENSP00000369889.3:p.Asn514Thr
ENST00000337299.6:c.1334A>C	ENSP00000338213.6:p.Asn445Thr
ENST00000380518.7:c.1541A>C	ENSP00000369889.3:p.Asn514Thr
ENST00000493991.5:n.465A>C
NM_001844.4:c.1541A>C	NP_001835.3:p.Asn514Thr
NM_033150.2:c.1334A>C	NP_149162.2:p.Asn445Thr
XM_006719242.2:c.1685A>C	XP_006719305.2:p.Asn562Thr
XM_011537928.1:c.1685A>C	XP_011536230.1:p.Asn562Thr
XM_011537929.1:c.1685A>C	XP_011536231.1:p.Asn562Thr
XM_011537930.1:c.1685A>C	XP_011536232.1:p.Asn562Thr
XM_011537931.1:c.1685A>C	XP_011536233.1:p.Asn562Thr
XM_011537932.1:c.1685A>C	XP_011536234.1:p.Asn562Thr
XM_011537933.1:c.1685A>C	XP_011536235.1:p.Asn562Thr
XM_011537934.1:c.1682A>C	XP_011536236.1:p.Asn561Thr
XM_011537935.1:c.629A>C	XP_011536237.1:p.Asn210Thr
XM_017018828.1:c.1685A>C	XP_016874317.1:p.Asn562Thr
XM_017018829.1:c.1682A>C	XP_016874318.1:p.Asn561Thr
XM_017018830.1:c.1475A>C	XP_016874319.1:p.Asn492Thr
XM_017018831.2:c.995A>C	XP_016874320.1:p.Asn332Thr
NM_001844.5:c.1541A>C MANE Select	NP_001835.3:p.Asn514Thr
NM_033150.3:c.1334A>C	NP_149162.2:p.Asn445Thr