Canonical Allele Identifier: CA363644204

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33142320C>T (hg19) ; chr6:g.33174543C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33174543C>T , CM000668.2:g.33174543C>T	GRCh38
NC_000006.11:g.33142320C>T , CM000668.1:g.33142320C>T	GRCh37
NC_000006.10:g.33250298C>T	NCBI36
NG_011589.1:g.22926G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361917.6:c.987G>A
ENST00000341947.7:c.2414G>A MANE Select	ENSP00000339915.2:p.Gly805Glu
ENST00000341947.6:c.2414G>A	ENSP00000339915.2:p.Gly805Glu
ENST00000361917.5:c.2093G>A	ENSP00000355123.1:p.Gly698Glu
ENST00000374708.8:c.2156G>A	ENSP00000363840.4:p.Gly719Glu
ENST00000477772.1:n.272+2466G>A
NM_080679.2:c.2093G>A	NP_542410.2:p.Gly698Glu
NM_080680.2:c.2414G>A	NP_542411.2:p.Gly805Glu
NM_080681.2:c.2156G>A	NP_542412.2:p.Gly719Glu
XM_011514298.1:c.1568G>A	XP_011512600.1:p.Gly523Glu
XM_011514299.1:c.1700G>A	XP_011512601.1:p.Gly567Glu
XM_011514300.1:c.1520G>A	XP_011512602.1:p.Gly507Glu
XM_011514301.1:c.1457G>A	XP_011512603.1:p.Gly486Glu
XM_011514302.1:c.1301G>A	XP_011512604.1:p.Gly434Glu
XM_011514299.2:c.1700G>A	XP_011512601.1:p.Gly567Glu
XM_011514300.2:c.1520G>A	XP_011512602.1:p.Gly507Glu
XM_011514302.2:c.1301G>A	XP_011512604.1:p.Gly434Glu
XM_017010250.1:c.2414G>A	XP_016865739.1:p.Gly805Glu
XM_017010251.2:c.1232G>A	XP_016865740.1:p.Gly411Glu
NM_080680.3:c.2414G>A MANE Select	NP_542411.2:p.Gly805Glu
NM_080681.3:c.2156G>A	NP_542412.2:p.Gly719Glu
NM_080679.3:c.2093G>A	NP_542410.2:p.Gly698Glu