Canonical Allele Identifier: CA449881431

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33142319T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33174542T>A , CM000668.2:g.33174542T>A	GRCh38
NC_000006.11:g.33142319T>A , CM000668.1:g.33142319T>A	GRCh37
NC_000006.10:g.33250297T>A	NCBI36
NG_011589.1:g.22927A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361917.6:c.988A>T
ENST00000341947.7:c.2415A>T MANE Select	ENSP00000339915.2:p.Gly805=
ENST00000341947.6:c.2415A>T	ENSP00000339915.2:p.Gly805=
ENST00000361917.5:c.2094A>T	ENSP00000355123.1:p.Gly698=
ENST00000374708.8:c.2157A>T	ENSP00000363840.4:p.Gly719=
ENST00000477772.1:n.272+2467A>T
NM_080679.2:c.2094A>T	NP_542410.2:p.Gly698=
NM_080680.2:c.2415A>T	NP_542411.2:p.Gly805=
NM_080681.2:c.2157A>T	NP_542412.2:p.Gly719=
XM_011514298.1:c.1569A>T	XP_011512600.1:p.Gly523=
XM_011514299.1:c.1701A>T	XP_011512601.1:p.Gly567=
XM_011514300.1:c.1521A>T	XP_011512602.1:p.Gly507=
XM_011514301.1:c.1458A>T	XP_011512603.1:p.Gly486=
XM_011514302.1:c.1302A>T	XP_011512604.1:p.Gly434=
XM_011514299.2:c.1701A>T	XP_011512601.1:p.Gly567=
XM_011514300.2:c.1521A>T	XP_011512602.1:p.Gly507=
XM_011514302.2:c.1302A>T	XP_011512604.1:p.Gly434=
XM_017010250.1:c.2415A>T	XP_016865739.1:p.Gly805=
XM_017010251.2:c.1233A>T	XP_016865740.1:p.Gly411=
NM_080680.3:c.2415A>T MANE Select	NP_542411.2:p.Gly805=
NM_080681.3:c.2157A>T	NP_542412.2:p.Gly719=
NM_080679.3:c.2094A>T	NP_542410.2:p.Gly698=