Canonical Allele Identifier: CA363616070

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 2061220
• ClinVar RCV Id: RCV002942558
• dbSNP Id: rs1768765722
• gnomAD v3: 6-33164343-C-T
• gnomAD v4: 6-33164343-C-T
• MyVariant Identifiers: chr6:g.33132120C>T (hg19) ; chr6:g.33164343C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164343C>T , CM000668.2:g.33164343C>T	GRCh38
NC_000006.11:g.33132120C>T , CM000668.1:g.33132120C>T	GRCh37
NC_000006.10:g.33240098C>T	NCBI36
NG_011589.1:g.33126G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.800G>A
ENST00000341947.7:c.4994G>A MANE Select	ENSP00000339915.2:p.Arg1665Lys
ENST00000341947.6:c.4994G>A	ENSP00000339915.2:p.Arg1665Lys
ENST00000361917.5:c.4673G>A	ENSP00000355123.1:p.Arg1558Lys
ENST00000374708.8:c.4736G>A	ENSP00000363840.4:p.Arg1579Lys
ENST00000477772.1:n.784G>A
NM_080679.2:c.4673G>A	NP_542410.2:p.Arg1558Lys
NM_080680.2:c.4994G>A	NP_542411.2:p.Arg1665Lys
NM_080681.2:c.4736G>A	NP_542412.2:p.Arg1579Lys
XM_011514298.1:c.4148G>A	XP_011512600.1:p.Arg1383Lys
XM_011514299.1:c.4280G>A	XP_011512601.1:p.Arg1427Lys
XM_011514300.1:c.4100G>A	XP_011512602.1:p.Arg1367Lys
XM_011514301.1:c.4037G>A	XP_011512603.1:p.Arg1346Lys
XM_011514302.1:c.3881G>A	XP_011512604.1:p.Arg1294Lys
XM_011514299.2:c.4280G>A	XP_011512601.1:p.Arg1427Lys
XM_011514300.2:c.4100G>A	XP_011512602.1:p.Arg1367Lys
XM_011514302.2:c.3881G>A	XP_011512604.1:p.Arg1294Lys
XM_017010250.1:c.4994G>A	XP_016865739.1:p.Arg1665Lys
XM_017010251.2:c.3812G>A	XP_016865740.1:p.Arg1271Lys
NM_080680.3:c.4994G>A MANE Select	NP_542411.2:p.Arg1665Lys
NM_080681.3:c.4736G>A	NP_542412.2:p.Arg1579Lys
NM_080679.3:c.4673G>A	NP_542410.2:p.Arg1558Lys