Canonical Allele Identifier: CA1619899139
Community Standard Title: NM_080680.3(COL11A2):c.2179G= (p.Gly727=)
Gene: COL11A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33176294C= , CM000668.2:g.33176294C= GRCh38
NC_000006.11:g.33144071C= , CM000668.1:g.33144071C= GRCh37
NC_000006.10:g.33252049C= NCBI36
NG_011589.1:g.21175G=

Transcript Alleles

HGVS Amino-acid Change
NM_080680.3:c.2179G= MANE Select NP_542411.2:p.Gly727=
ENST00000341947.7:c.2179G= MANE Select ENSP00000339915.2:p.Gly727=
NM_080679.2:c.1858G= NP_542410.2:p.Gly620=
NM_080679.3:c.1858G= NP_542410.2:p.Gly620=
NM_080680.2:c.2179G= NP_542411.2:p.Gly727=
NM_080681.2:c.1921G= NP_542412.2:p.Gly641=
NM_080681.3:c.1921G= NP_542412.2:p.Gly641=
ENST00000341947.6:c.2179G= ENSP00000339915.2:p.Gly727=
ENST00000361917.5:c.1858G= ENSP00000355123.1:p.Gly620=
ENST00000361917.6:c.752G=
ENST00000374708.8:c.1921G= ENSP00000363840.4:p.Gly641=
ENST00000477772.1:n.272+715G=
XM_011514298.1:c.1333G= XP_011512600.1:p.Gly445=
XM_011514299.1:c.1465G= XP_011512601.1:p.Gly489=
XM_011514299.2:c.1465G= XP_011512601.1:p.Gly489=
XM_011514300.1:c.1285G= XP_011512602.1:p.Gly429=
XM_011514300.2:c.1285G= XP_011512602.1:p.Gly429=
XM_011514301.1:c.1222G= XP_011512603.1:p.Gly408=
XM_011514302.1:c.1066G= XP_011512604.1:p.Gly356=
XM_011514302.2:c.1066G= XP_011512604.1:p.Gly356=
XM_017010250.1:c.2179G= XP_016865739.1:p.Gly727=
XM_017010251.2:c.997G= XP_016865740.1:p.Gly333=