Canonical Allele Identifier: CA363644197

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33142318G>C (hg19) ; chr6:g.33174541G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33174541G>C , CM000668.2:g.33174541G>C	GRCh38
NC_000006.11:g.33142318G>C , CM000668.1:g.33142318G>C	GRCh37
NC_000006.10:g.33250296G>C	NCBI36
NG_011589.1:g.22928C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361917.6:c.989C>G
ENST00000341947.7:c.2416C>G MANE Select	ENSP00000339915.2:p.Arg806Gly
ENST00000341947.6:c.2416C>G	ENSP00000339915.2:p.Arg806Gly
ENST00000361917.5:c.2095C>G	ENSP00000355123.1:p.Arg699Gly
ENST00000374708.8:c.2158C>G	ENSP00000363840.4:p.Arg720Gly
ENST00000477772.1:n.272+2468C>G
NM_080679.2:c.2095C>G	NP_542410.2:p.Arg699Gly
NM_080680.2:c.2416C>G	NP_542411.2:p.Arg806Gly
NM_080681.2:c.2158C>G	NP_542412.2:p.Arg720Gly
XM_011514298.1:c.1570C>G	XP_011512600.1:p.Arg524Gly
XM_011514299.1:c.1702C>G	XP_011512601.1:p.Arg568Gly
XM_011514300.1:c.1522C>G	XP_011512602.1:p.Arg508Gly
XM_011514301.1:c.1459C>G	XP_011512603.1:p.Arg487Gly
XM_011514302.1:c.1303C>G	XP_011512604.1:p.Arg435Gly
XM_011514299.2:c.1702C>G	XP_011512601.1:p.Arg568Gly
XM_011514300.2:c.1522C>G	XP_011512602.1:p.Arg508Gly
XM_011514302.2:c.1303C>G	XP_011512604.1:p.Arg435Gly
XM_017010250.1:c.2416C>G	XP_016865739.1:p.Arg806Gly
XM_017010251.2:c.1234C>G	XP_016865740.1:p.Arg412Gly
NM_080680.3:c.2416C>G MANE Select	NP_542411.2:p.Arg806Gly
NM_080681.3:c.2158C>G	NP_542412.2:p.Arg720Gly
NM_080679.3:c.2095C>G	NP_542410.2:p.Arg699Gly