Canonical Allele Identifier: CA363616055

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 1462244
• ClinVar RCV Id: RCV001985644 ; RCV003303510
• dbSNP Id: rs759322344
• MyVariant Identifiers: chr6:g.33132115G>T (hg19) ; chr6:g.33164338G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164338G>T , CM000668.2:g.33164338G>T	GRCh38
NC_000006.11:g.33132115G>T , CM000668.1:g.33132115G>T	GRCh37
NC_000006.10:g.33240093G>T	NCBI36
NG_011589.1:g.33131C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.805C>A
ENST00000341947.7:c.4999C>A MANE Select	ENSP00000339915.2:p.Arg1667Ser
ENST00000341947.6:c.4999C>A	ENSP00000339915.2:p.Arg1667Ser
ENST00000361917.5:c.4678C>A	ENSP00000355123.1:p.Arg1560Ser
ENST00000374708.8:c.4741C>A	ENSP00000363840.4:p.Arg1581Ser
ENST00000477772.1:n.789C>A
NM_080679.2:c.4678C>A	NP_542410.2:p.Arg1560Ser
NM_080680.2:c.4999C>A	NP_542411.2:p.Arg1667Ser
NM_080681.2:c.4741C>A	NP_542412.2:p.Arg1581Ser
XM_011514298.1:c.4153C>A	XP_011512600.1:p.Arg1385Ser
XM_011514299.1:c.4285C>A	XP_011512601.1:p.Arg1429Ser
XM_011514300.1:c.4105C>A	XP_011512602.1:p.Arg1369Ser
XM_011514301.1:c.4042C>A	XP_011512603.1:p.Arg1348Ser
XM_011514302.1:c.3886C>A	XP_011512604.1:p.Arg1296Ser
XM_011514299.2:c.4285C>A	XP_011512601.1:p.Arg1429Ser
XM_011514300.2:c.4105C>A	XP_011512602.1:p.Arg1369Ser
XM_011514302.2:c.3886C>A	XP_011512604.1:p.Arg1296Ser
XM_017010250.1:c.4999C>A	XP_016865739.1:p.Arg1667Ser
XM_017010251.2:c.3817C>A	XP_016865740.1:p.Arg1273Ser
NM_080680.3:c.4999C>A MANE Select	NP_542411.2:p.Arg1667Ser
NM_080681.3:c.4741C>A	NP_542412.2:p.Arg1581Ser
NM_080679.3:c.4678C>A	NP_542410.2:p.Arg1560Ser