Canonical Allele Identifier: CA1619890623
Gene: COL11A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33164955C= , CM000668.2:g.33164955C= GRCh38
NC_000006.11:g.33132732C= , CM000668.1:g.33132732C= GRCh37
NC_000006.10:g.33240710C= NCBI36
NG_011589.1:g.32514G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000683572.1:n.566G=
ENST00000341947.7:c.4760G= MANE Select ENSP00000339915.2:p.Trp1587=
ENST00000341947.6:c.4760G= ENSP00000339915.2:p.Trp1587=
ENST00000361917.5:c.4439G= ENSP00000355123.1:p.Trp1480=
ENST00000374708.8:c.4502G= ENSP00000363840.4:p.Trp1501=
ENST00000477772.1:n.550G=
NM_080679.2:c.4439G= NP_542410.2:p.Trp1480=
NM_080680.2:c.4760G= NP_542411.2:p.Trp1587=
NM_080681.2:c.4502G= NP_542412.2:p.Trp1501=
XM_011514298.1:c.3914G= XP_011512600.1:p.Trp1305=
XM_011514299.1:c.4046G= XP_011512601.1:p.Trp1349=
XM_011514300.1:c.3866G= XP_011512602.1:p.Trp1289=
XM_011514301.1:c.3803G= XP_011512603.1:p.Trp1268=
XM_011514302.1:c.3647G= XP_011512604.1:p.Trp1216=
XM_011514299.2:c.4046G= XP_011512601.1:p.Trp1349=
XM_011514300.2:c.3866G= XP_011512602.1:p.Trp1289=
XM_011514302.2:c.3647G= XP_011512604.1:p.Trp1216=
XM_017010250.1:c.4760G= XP_016865739.1:p.Trp1587=
XM_017010251.2:c.3578G= XP_016865740.1:p.Trp1193=
NM_080680.3:c.4760G= MANE Select NP_542411.2:p.Trp1587=
NM_080681.3:c.4502G= NP_542412.2:p.Trp1501=
NM_080679.3:c.4439G= NP_542410.2:p.Trp1480=