Canonical Allele Identifier: CA363644285

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33142332G>C (hg19) ; chr6:g.33174555G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33174555G>C , CM000668.2:g.33174555G>C	GRCh38
NC_000006.11:g.33142332G>C , CM000668.1:g.33142332G>C	GRCh37
NC_000006.10:g.33250310G>C	NCBI36
NG_011589.1:g.22914C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361917.6:c.975C>G
ENST00000341947.7:c.2402C>G MANE Select	ENSP00000339915.2:p.Pro801Arg
ENST00000341947.6:c.2402C>G	ENSP00000339915.2:p.Pro801Arg
ENST00000361917.5:c.2081C>G	ENSP00000355123.1:p.Pro694Arg
ENST00000374708.8:c.2144C>G	ENSP00000363840.4:p.Pro715Arg
ENST00000477772.1:n.272+2454C>G
NM_080679.2:c.2081C>G	NP_542410.2:p.Pro694Arg
NM_080680.2:c.2402C>G	NP_542411.2:p.Pro801Arg
NM_080681.2:c.2144C>G	NP_542412.2:p.Pro715Arg
XM_011514298.1:c.1556C>G	XP_011512600.1:p.Pro519Arg
XM_011514299.1:c.1688C>G	XP_011512601.1:p.Pro563Arg
XM_011514300.1:c.1508C>G	XP_011512602.1:p.Pro503Arg
XM_011514301.1:c.1445C>G	XP_011512603.1:p.Pro482Arg
XM_011514302.1:c.1289C>G	XP_011512604.1:p.Pro430Arg
XM_011514299.2:c.1688C>G	XP_011512601.1:p.Pro563Arg
XM_011514300.2:c.1508C>G	XP_011512602.1:p.Pro503Arg
XM_011514302.2:c.1289C>G	XP_011512604.1:p.Pro430Arg
XM_017010250.1:c.2402C>G	XP_016865739.1:p.Pro801Arg
XM_017010251.2:c.1220C>G	XP_016865740.1:p.Pro407Arg
NM_080680.3:c.2402C>G MANE Select	NP_542411.2:p.Pro801Arg
NM_080681.3:c.2144C>G	NP_542412.2:p.Pro715Arg
NM_080679.3:c.2081C>G	NP_542410.2:p.Pro694Arg