Canonical Allele Identifier: CA3750986

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33176064C>A , CM000668.2:g.33176064C>A	GRCh38
NC_000006.11:g.33143841C>A , CM000668.1:g.33143841C>A	GRCh37
NC_000006.10:g.33251819C>A	NCBI36
NG_011589.1:g.21405G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_080680.3:c.2220G>T MANE Select	NP_542411.2:p.Glu740Asp
ENST00000341947.7:c.2220G>T MANE Select	ENSP00000339915.2:p.Glu740Asp
NM_080679.2:c.1899G>T	NP_542410.2:p.Glu633Asp
NM_080679.3:c.1899G>T	NP_542410.2:p.Glu633Asp
NM_080680.2:c.2220G>T	NP_542411.2:p.Glu740Asp
NM_080681.2:c.1962G>T	NP_542412.2:p.Glu654Asp
NM_080681.3:c.1962G>T	NP_542412.2:p.Glu654Asp
ENST00000341947.6:c.2220G>T	ENSP00000339915.2:p.Glu740Asp
ENST00000361917.5:c.1899G>T	ENSP00000355123.1:p.Glu633Asp
ENST00000361917.6:c.793G>T
ENST00000374708.8:c.1962G>T	ENSP00000363840.4:p.Glu654Asp
ENST00000477772.1:n.272+945G>T
XM_011514298.1:c.1374G>T	XP_011512600.1:p.Glu458Asp
XM_011514299.1:c.1506G>T	XP_011512601.1:p.Glu502Asp
XM_011514299.2:c.1506G>T	XP_011512601.1:p.Glu502Asp
XM_011514300.1:c.1326G>T	XP_011512602.1:p.Glu442Asp
XM_011514300.2:c.1326G>T	XP_011512602.1:p.Glu442Asp
XM_011514301.1:c.1263G>T	XP_011512603.1:p.Glu421Asp
XM_011514302.1:c.1107G>T	XP_011512604.1:p.Glu369Asp
XM_011514302.2:c.1107G>T	XP_011512604.1:p.Glu369Asp
XM_017010250.1:c.2220G>T	XP_016865739.1:p.Glu740Asp
XM_017010251.2:c.1038G>T	XP_016865740.1:p.Glu346Asp