Canonical Allele Identifier: CA16603355

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 377372
• ClinVar RCV Id: RCV000418094
• dbSNP Id: rs962608488
• MyVariant Identifiers: chr6:g.33143432C>A (hg19) ; chr6:g.33175655C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33175655C>A , CM000668.2:g.33175655C>A	GRCh38
NC_000006.11:g.33143432C>A , CM000668.1:g.33143432C>A	GRCh37
NC_000006.10:g.33251410C>A	NCBI36
NG_011589.1:g.21814G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361917.6:c.868G>T
ENST00000341947.7:c.2295G>T MANE Select	ENSP00000339915.2:p.Arg765Ser
ENST00000341947.6:c.2295G>T	ENSP00000339915.2:p.Arg765Ser
ENST00000361917.5:c.1974G>T	ENSP00000355123.1:p.Arg658Ser
ENST00000374708.8:c.2037G>T	ENSP00000363840.4:p.Arg679Ser
ENST00000477772.1:n.272+1354G>T
NM_080679.2:c.1974G>T	NP_542410.2:p.Arg658Ser
NM_080680.2:c.2295G>T	NP_542411.2:p.Arg765Ser
NM_080681.2:c.2037G>T	NP_542412.2:p.Arg679Ser
XM_011514298.1:c.1449G>T	XP_011512600.1:p.Arg483Ser
XM_011514299.1:c.1581G>T	XP_011512601.1:p.Arg527Ser
XM_011514300.1:c.1401G>T	XP_011512602.1:p.Arg467Ser
XM_011514301.1:c.1338G>T	XP_011512603.1:p.Arg446Ser
XM_011514302.1:c.1182G>T	XP_011512604.1:p.Arg394Ser
XM_011514299.2:c.1581G>T	XP_011512601.1:p.Arg527Ser
XM_011514300.2:c.1401G>T	XP_011512602.1:p.Arg467Ser
XM_011514302.2:c.1182G>T	XP_011512604.1:p.Arg394Ser
XM_017010250.1:c.2295G>T	XP_016865739.1:p.Arg765Ser
XM_017010251.2:c.1113G>T	XP_016865740.1:p.Arg371Ser
NM_080680.3:c.2295G>T MANE Select	NP_542411.2:p.Arg765Ser
NM_080681.3:c.2037G>T	NP_542412.2:p.Arg679Ser
NM_080679.3:c.1974G>T	NP_542410.2:p.Arg658Ser