Canonical Allele Identifier: CA1619898436
Community Standard Title: NM_080680.3(COL11A2):c.2423G= (p.Gly808=)
Gene: COL11A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33174534C= , CM000668.2:g.33174534C= GRCh38
NC_000006.11:g.33142311C= , CM000668.1:g.33142311C= GRCh37
NC_000006.10:g.33250289C= NCBI36
NG_011589.1:g.22935G=

Transcript Alleles

HGVS Amino-acid Change
NM_080680.3:c.2423G= MANE Select NP_542411.2:p.Gly808=
ENST00000341947.7:c.2423G= MANE Select ENSP00000339915.2:p.Gly808=
NM_080679.2:c.2102G= NP_542410.2:p.Gly701=
NM_080679.3:c.2102G= NP_542410.2:p.Gly701=
NM_080680.2:c.2423G= NP_542411.2:p.Gly808=
NM_080681.2:c.2165G= NP_542412.2:p.Gly722=
NM_080681.3:c.2165G= NP_542412.2:p.Gly722=
ENST00000341947.6:c.2423G= ENSP00000339915.2:p.Gly808=
ENST00000361917.5:c.2102G= ENSP00000355123.1:p.Gly701=
ENST00000361917.6:c.996G=
ENST00000374708.8:c.2165G= ENSP00000363840.4:p.Gly722=
ENST00000477772.1:n.272+2475G=
XM_011514298.1:c.1577G= XP_011512600.1:p.Gly526=
XM_011514299.1:c.1709G= XP_011512601.1:p.Gly570=
XM_011514299.2:c.1709G= XP_011512601.1:p.Gly570=
XM_011514300.1:c.1529G= XP_011512602.1:p.Gly510=
XM_011514300.2:c.1529G= XP_011512602.1:p.Gly510=
XM_011514301.1:c.1466G= XP_011512603.1:p.Gly489=
XM_011514302.1:c.1310G= XP_011512604.1:p.Gly437=
XM_011514302.2:c.1310G= XP_011512604.1:p.Gly437=
XM_017010250.1:c.2423G= XP_016865739.1:p.Gly808=
XM_017010251.2:c.1241G= XP_016865740.1:p.Gly414=