Canonical Allele Identifier: CA10626491

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 356409
• ClinVar RCV Id: RCV000269538 ; RCV000284970 ; RCV000364198 ; RCV000379465
• dbSNP Id: rs886061317
• gnomAD v4: 6-33184992-C-G
• MyVariant Identifiers: chr6:g.33152769C>G (hg19) ; chr6:g.33184992C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33184992C>G , CM000668.2:g.33184992C>G	GRCh38
NC_000006.11:g.33152769C>G , CM000668.1:g.33152769C>G	GRCh37
NC_000006.10:g.33260747C>G	NCBI36
NG_011589.1:g.12477G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682718.1:n.756G>C
ENST00000341947.7:c.939G>C MANE Select	ENSP00000339915.2:p.Glu313Asp
ENST00000341947.6:c.939G>C	ENSP00000339915.2:p.Glu313Asp
ENST00000361917.5:c.798+1635G>C	ENSP00000355123.1:n.798+1635G>C
ENST00000374708.8:c.861G>C	ENSP00000363840.4:p.Glu287Asp
ENST00000457788.5:c.939G>C	ENSP00000405520.1:p.Glu313Asp
NM_080679.2:c.798+1635G>C	NP_542410.2:n.798+1635G>C
NM_080680.2:c.939G>C	NP_542411.2:p.Glu313Asp
NM_080681.2:c.861G>C	NP_542412.2:p.Glu287Asp
XM_011514298.1:c.93G>C	XP_011512600.1:p.Glu31Asp
XM_011514299.1:c.225G>C	XP_011512601.1:p.Glu75Asp
XM_011514300.1:c.225G>C	XP_011512602.1:p.Glu75Asp
XM_011514301.1:c.162+292G>C	XP_011512603.1:n.162+292G>C
XM_011514299.2:c.225G>C	XP_011512601.1:p.Glu75Asp
XM_011514300.2:c.225G>C	XP_011512602.1:p.Glu75Asp
XM_017010250.1:c.939G>C	XP_016865739.1:p.Glu313Asp
NM_080680.3:c.939G>C MANE Select	NP_542411.2:p.Glu313Asp
NM_080681.3:c.861G>C	NP_542412.2:p.Glu287Asp
NM_080679.3:c.798+1635G>C	NP_542410.2:n.798+1635G>C