Canonical Allele Identifier: CA363636527

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33171783C>T , CM000668.2:g.33171783C>T	GRCh38
NC_000006.11:g.33139560C>T , CM000668.1:g.33139560C>T	GRCh37
NC_000006.10:g.33247538C>T	NCBI36
NG_011589.1:g.25686G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_080680.3:c.3080G>A MANE Select	NP_542411.2:p.Gly1027Glu
ENST00000341947.7:c.3080G>A MANE Select	ENSP00000339915.2:p.Gly1027Glu
NM_080679.2:c.2759G>A	NP_542410.2:p.Gly920Glu
NM_080679.3:c.2759G>A	NP_542410.2:p.Gly920Glu
NM_080680.2:c.3080G>A	NP_542411.2:p.Gly1027Glu
NM_080681.2:c.2822G>A	NP_542412.2:p.Gly941Glu
NM_080681.3:c.2822G>A	NP_542412.2:p.Gly941Glu
ENST00000341947.6:c.3080G>A	ENSP00000339915.2:p.Gly1027Glu
ENST00000361917.5:c.2759G>A	ENSP00000355123.1:p.Gly920Glu
ENST00000374708.8:c.2822G>A	ENSP00000363840.4:p.Gly941Glu
ENST00000477772.1:n.272+5226G>A
XM_011514298.1:c.2234G>A	XP_011512600.1:p.Gly745Glu
XM_011514299.1:c.2366G>A	XP_011512601.1:p.Gly789Glu
XM_011514299.2:c.2366G>A	XP_011512601.1:p.Gly789Glu
XM_011514300.1:c.2186G>A	XP_011512602.1:p.Gly729Glu
XM_011514300.2:c.2186G>A	XP_011512602.1:p.Gly729Glu
XM_011514301.1:c.2123G>A	XP_011512603.1:p.Gly708Glu
XM_011514302.1:c.1967G>A	XP_011512604.1:p.Gly656Glu
XM_011514302.2:c.1967G>A	XP_011512604.1:p.Gly656Glu
XM_017010250.1:c.3080G>A	XP_016865739.1:p.Gly1027Glu
XM_017010251.2:c.1898G>A	XP_016865740.1:p.Gly633Glu