Canonical Allele Identifier: CA1619890464
Gene: COL11A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33164880C= , CM000668.2:g.33164880C= GRCh38
NC_000006.11:g.33132657C= , CM000668.1:g.33132657C= GRCh37
NC_000006.10:g.33240635C= NCBI36
NG_011589.1:g.32589G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000683572.1:n.641G=
ENST00000341947.7:c.4835G= MANE Select ENSP00000339915.2:p.Cys1612=
ENST00000341947.6:c.4835G= ENSP00000339915.2:p.Cys1612=
ENST00000361917.5:c.4514G= ENSP00000355123.1:p.Cys1505=
ENST00000374708.8:c.4577G= ENSP00000363840.4:p.Cys1526=
ENST00000477772.1:n.625G=
NM_080679.2:c.4514G= NP_542410.2:p.Cys1505=
NM_080680.2:c.4835G= NP_542411.2:p.Cys1612=
NM_080681.2:c.4577G= NP_542412.2:p.Cys1526=
XM_011514298.1:c.3989G= XP_011512600.1:p.Cys1330=
XM_011514299.1:c.4121G= XP_011512601.1:p.Cys1374=
XM_011514300.1:c.3941G= XP_011512602.1:p.Cys1314=
XM_011514301.1:c.3878G= XP_011512603.1:p.Cys1293=
XM_011514302.1:c.3722G= XP_011512604.1:p.Cys1241=
XM_011514299.2:c.4121G= XP_011512601.1:p.Cys1374=
XM_011514300.2:c.3941G= XP_011512602.1:p.Cys1314=
XM_011514302.2:c.3722G= XP_011512604.1:p.Cys1241=
XM_017010250.1:c.4835G= XP_016865739.1:p.Cys1612=
XM_017010251.2:c.3653G= XP_016865740.1:p.Cys1218=
NM_080680.3:c.4835G= MANE Select NP_542411.2:p.Cys1612=
NM_080681.3:c.4577G= NP_542412.2:p.Cys1526=
NM_080679.3:c.4514G= NP_542410.2:p.Cys1505=