Canonical Allele Identifier: CA137067926

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33172564C>T , CM000668.2:g.33172564C>T	GRCh38
NC_000006.11:g.33140341C>T , CM000668.1:g.33140341C>T	GRCh37
NC_000006.10:g.33248319C>T	NCBI36
NG_011589.1:g.24905G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.2864G>A MANE Select	ENSP00000339915.2:p.Gly955Glu
ENST00000341947.6:c.2864G>A	ENSP00000339915.2:p.Gly955Glu
ENST00000361917.5:c.2543G>A	ENSP00000355123.1:p.Gly848Glu
ENST00000374708.8:c.2606G>A	ENSP00000363840.4:p.Gly869Glu
ENST00000477772.1:n.272+4445G>A
NM_080679.2:c.2543G>A	NP_542410.2:p.Gly848Glu
NM_080680.2:c.2864G>A	NP_542411.2:p.Gly955Glu
NM_080681.2:c.2606G>A	NP_542412.2:p.Gly869Glu
XM_011514298.1:c.2018G>A	XP_011512600.1:p.Gly673Glu
XM_011514299.1:c.2150G>A	XP_011512601.1:p.Gly717Glu
XM_011514300.1:c.1970G>A	XP_011512602.1:p.Gly657Glu
XM_011514301.1:c.1907G>A	XP_011512603.1:p.Gly636Glu
XM_011514302.1:c.1751G>A	XP_011512604.1:p.Gly584Glu
XM_011514299.2:c.2150G>A	XP_011512601.1:p.Gly717Glu
XM_011514300.2:c.1970G>A	XP_011512602.1:p.Gly657Glu
XM_011514302.2:c.1751G>A	XP_011512604.1:p.Gly584Glu
XM_017010250.1:c.2864G>A	XP_016865739.1:p.Gly955Glu
XM_017010251.2:c.1682G>A	XP_016865740.1:p.Gly561Glu
NM_080680.3:c.2864G>A MANE Select	NP_542411.2:p.Gly955Glu
NM_080681.3:c.2606G>A	NP_542412.2:p.Gly869Glu
NM_080679.3:c.2543G>A	NP_542410.2:p.Gly848Glu