Canonical Allele Identifier: CA1619897218
Gene: COL11A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33171805G= , CM000668.2:g.33171805G= GRCh38
NC_000006.11:g.33139582G= , CM000668.1:g.33139582G= GRCh37
NC_000006.10:g.33247560G= NCBI36
NG_011589.1:g.25664C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000341947.7:c.3058C= MANE Select ENSP00000339915.2:p.Arg1020=
ENST00000341947.6:c.3058C= ENSP00000339915.2:p.Arg1020=
ENST00000361917.5:c.2737C= ENSP00000355123.1:p.Arg913=
ENST00000374708.8:c.2800C= ENSP00000363840.4:p.Arg934=
ENST00000477772.1:n.272+5204C=
NM_080679.2:c.2737C= NP_542410.2:p.Arg913=
NM_080680.2:c.3058C= NP_542411.2:p.Arg1020=
NM_080681.2:c.2800C= NP_542412.2:p.Arg934=
XM_011514298.1:c.2212C= XP_011512600.1:p.Arg738=
XM_011514299.1:c.2344C= XP_011512601.1:p.Arg782=
XM_011514300.1:c.2164C= XP_011512602.1:p.Arg722=
XM_011514301.1:c.2101C= XP_011512603.1:p.Arg701=
XM_011514302.1:c.1945C= XP_011512604.1:p.Arg649=
XM_011514299.2:c.2344C= XP_011512601.1:p.Arg782=
XM_011514300.2:c.2164C= XP_011512602.1:p.Arg722=
XM_011514302.2:c.1945C= XP_011512604.1:p.Arg649=
XM_017010250.1:c.3058C= XP_016865739.1:p.Arg1020=
XM_017010251.2:c.1876C= XP_016865740.1:p.Arg626=
NM_080680.3:c.3058C= MANE Select NP_542411.2:p.Arg1020=
NM_080681.3:c.2800C= NP_542412.2:p.Arg934=
NM_080679.3:c.2737C= NP_542410.2:p.Arg913=