Canonical Allele Identifier: CA240966

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 194797
• ClinVar RCV Id: RCV000175243 ; RCV001151604 ; RCV001151605 ; RCV001154613 ; RCV002516668
• dbSNP Id: rs199866657
• ExAC: 6:33146725 C / T
• gnomAD v2: 6-33146725-C-T
• gnomAD v3: 6-33178948-C-T
• gnomAD v4: 6-33178948-C-T
• MyVariant Identifiers: chr6:g.33146725C>T (hg19) ; chr6:g.33178948C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33178948C>T , CM000668.2:g.33178948C>T	GRCh38
NC_000006.11:g.33146725C>T , CM000668.1:g.33146725C>T	GRCh37
NC_000006.10:g.33254703C>T	NCBI36
NG_011589.1:g.18521G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361917.6:c.264G>A
ENST00000341947.7:c.1637G>A MANE Select	ENSP00000339915.2:p.Arg546Gln
ENST00000341947.6:c.1637G>A	ENSP00000339915.2:p.Arg546Gln
ENST00000361917.5:c.1316G>A	ENSP00000355123.1:p.Arg439Gln
ENST00000374708.8:c.1379G>A	ENSP00000363840.4:p.Arg460Gln
ENST00000457788.5:c.1637G>A	ENSP00000405520.1:p.Arg546Gln
NM_080679.2:c.1316G>A	NP_542410.2:p.Arg439Gln
NM_080680.2:c.1637G>A	NP_542411.2:p.Arg546Gln
NM_080681.2:c.1379G>A	NP_542412.2:p.Arg460Gln
XM_011514298.1:c.791G>A	XP_011512600.1:p.Arg264Gln
XM_011514299.1:c.923G>A	XP_011512601.1:p.Arg308Gln
XM_011514300.1:c.743G>A	XP_011512602.1:p.Arg248Gln
XM_011514301.1:c.680G>A	XP_011512603.1:p.Arg227Gln
XM_011514302.1:c.524G>A	XP_011512604.1:p.Arg175Gln
XM_011514299.2:c.923G>A	XP_011512601.1:p.Arg308Gln
XM_011514300.2:c.743G>A	XP_011512602.1:p.Arg248Gln
XM_011514302.2:c.524G>A	XP_011512604.1:p.Arg175Gln
XM_017010250.1:c.1637G>A	XP_016865739.1:p.Arg546Gln
XM_017010251.2:c.455G>A	XP_016865740.1:p.Arg152Gln
NM_080680.3:c.1637G>A MANE Select	NP_542411.2:p.Arg546Gln
NM_080681.3:c.1379G>A	NP_542412.2:p.Arg460Gln
NM_080679.3:c.1316G>A	NP_542410.2:p.Arg439Gln