Canonical Allele Identifier: CA363610360

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33154521T>A (hg19) ; chr6:g.33186744T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33186744T>A , CM000668.2:g.33186744T>A	GRCh38
NC_000006.11:g.33154521T>A , CM000668.1:g.33154521T>A	GRCh37
NC_000006.10:g.33262499T>A	NCBI36
NG_011589.1:g.10725A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682718.1:n.498A>T
ENST00000341947.7:c.681A>T MANE Select	ENSP00000339915.2:p.Glu227Asp
ENST00000341947.6:c.681A>T	ENSP00000339915.2:p.Glu227Asp
ENST00000361917.5:c.681A>T	ENSP00000355123.1:p.Glu227Asp
ENST00000374708.8:c.681A>T	ENSP00000363840.4:p.Glu227Asp
ENST00000395194.1:c.681A>T	ENSP00000378620.1:p.Glu227Asp
ENST00000457788.5:c.681A>T	ENSP00000405520.1:p.Glu227Asp
NM_001163771.1:c.681A>T	NP_001157243.1:p.Glu227Asp
NM_080679.2:c.681A>T	NP_542410.2:p.Glu227Asp
NM_080680.2:c.681A>T	NP_542411.2:p.Glu227Asp
NM_080681.2:c.681A>T	NP_542412.2:p.Glu227Asp
XM_011514298.1:c.-166A>T	XP_011512600.1:n.-166A>T
XM_017010250.1:c.681A>T	XP_016865739.1:p.Glu227Asp
NM_001163771.2:c.681A>T	NP_001157243.1:p.Glu227Asp
NM_080680.3:c.681A>T MANE Select	NP_542411.2:p.Glu227Asp
NM_080681.3:c.681A>T	NP_542412.2:p.Glu227Asp
NM_080679.3:c.681A>T	NP_542410.2:p.Glu227Asp