Canonical Allele Identifier: CA3749939

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 1437721
• ClinVar RCV Id: RCV001957663
• dbSNP Id: rs759322344
• ExAC: 6:33132115 G / A
• gnomAD v2: 6-33132115-G-A
• gnomAD v4: 6-33164338-G-A
• MyVariant Identifiers: chr6:g.33132115G>A (hg19) ; chr6:g.33164338G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.805C>T
ENST00000341947.7:c.4999C>T MANE Select	ENSP00000339915.2:p.Arg1667Cys
ENST00000341947.6:c.4999C>T	ENSP00000339915.2:p.Arg1667Cys
ENST00000361917.5:c.4678C>T	ENSP00000355123.1:p.Arg1560Cys
ENST00000374708.8:c.4741C>T	ENSP00000363840.4:p.Arg1581Cys
ENST00000477772.1:n.789C>T
NM_080679.2:c.4678C>T	NP_542410.2:p.Arg1560Cys
NM_080680.2:c.4999C>T	NP_542411.2:p.Arg1667Cys
NM_080681.2:c.4741C>T	NP_542412.2:p.Arg1581Cys
XM_011514298.1:c.4153C>T	XP_011512600.1:p.Arg1385Cys
XM_011514299.1:c.4285C>T	XP_011512601.1:p.Arg1429Cys
XM_011514300.1:c.4105C>T	XP_011512602.1:p.Arg1369Cys
XM_011514301.1:c.4042C>T	XP_011512603.1:p.Arg1348Cys
XM_011514302.1:c.3886C>T	XP_011512604.1:p.Arg1296Cys
XM_011514299.2:c.4285C>T	XP_011512601.1:p.Arg1429Cys
XM_011514300.2:c.4105C>T	XP_011512602.1:p.Arg1369Cys
XM_011514302.2:c.3886C>T	XP_011512604.1:p.Arg1296Cys
XM_017010250.1:c.4999C>T	XP_016865739.1:p.Arg1667Cys
XM_017010251.2:c.3817C>T	XP_016865740.1:p.Arg1273Cys
NM_080680.3:c.4999C>T MANE Select	NP_542411.2:p.Arg1667Cys
NM_080681.3:c.4741C>T	NP_542412.2:p.Arg1581Cys
NM_080679.3:c.4678C>T	NP_542410.2:p.Arg1560Cys