Canonical Allele Identifier: CA1619889755
Gene: COL11A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33164393G= , CM000668.2:g.33164393G= GRCh38
NC_000006.11:g.33132170G= , CM000668.1:g.33132170G= GRCh37
NC_000006.10:g.33240148G= NCBI36
NG_011589.1:g.33076C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000683572.1:n.750C=
ENST00000341947.7:c.4944C= MANE Select ENSP00000339915.2:p.His1648=
ENST00000341947.6:c.4944C= ENSP00000339915.2:p.His1648=
ENST00000361917.5:c.4623C= ENSP00000355123.1:p.His1541=
ENST00000374708.8:c.4686C= ENSP00000363840.4:p.His1562=
ENST00000477772.1:n.734C=
NM_080679.2:c.4623C= NP_542410.2:p.His1541=
NM_080680.2:c.4944C= NP_542411.2:p.His1648=
NM_080681.2:c.4686C= NP_542412.2:p.His1562=
XM_011514298.1:c.4098C= XP_011512600.1:p.His1366=
XM_011514299.1:c.4230C= XP_011512601.1:p.His1410=
XM_011514300.1:c.4050C= XP_011512602.1:p.His1350=
XM_011514301.1:c.3987C= XP_011512603.1:p.His1329=
XM_011514302.1:c.3831C= XP_011512604.1:p.His1277=
XM_011514299.2:c.4230C= XP_011512601.1:p.His1410=
XM_011514300.2:c.4050C= XP_011512602.1:p.His1350=
XM_011514302.2:c.3831C= XP_011512604.1:p.His1277=
XM_017010250.1:c.4944C= XP_016865739.1:p.His1648=
XM_017010251.2:c.3762C= XP_016865740.1:p.His1254=
NM_080680.3:c.4944C= MANE Select NP_542411.2:p.His1648=
NM_080681.3:c.4686C= NP_542412.2:p.His1562=
NM_080679.3:c.4623C= NP_542410.2:p.His1541=