Canonical Allele Identifier: CA1619889713
Gene: COL11A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33164378G= , CM000668.2:g.33164378G= GRCh38
NC_000006.11:g.33132155G= , CM000668.1:g.33132155G= GRCh37
NC_000006.10:g.33240133G= NCBI36
NG_011589.1:g.33091C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000683572.1:n.765C=
ENST00000341947.7:c.4959C= MANE Select ENSP00000339915.2:p.Tyr1653=
ENST00000341947.6:c.4959C= ENSP00000339915.2:p.Tyr1653=
ENST00000361917.5:c.4638C= ENSP00000355123.1:p.Tyr1546=
ENST00000374708.8:c.4701C= ENSP00000363840.4:p.Tyr1567=
ENST00000477772.1:n.749C=
NM_080679.2:c.4638C= NP_542410.2:p.Tyr1546=
NM_080680.2:c.4959C= NP_542411.2:p.Tyr1653=
NM_080681.2:c.4701C= NP_542412.2:p.Tyr1567=
XM_011514298.1:c.4113C= XP_011512600.1:p.Tyr1371=
XM_011514299.1:c.4245C= XP_011512601.1:p.Tyr1415=
XM_011514300.1:c.4065C= XP_011512602.1:p.Tyr1355=
XM_011514301.1:c.4002C= XP_011512603.1:p.Tyr1334=
XM_011514302.1:c.3846C= XP_011512604.1:p.Tyr1282=
XM_011514299.2:c.4245C= XP_011512601.1:p.Tyr1415=
XM_011514300.2:c.4065C= XP_011512602.1:p.Tyr1355=
XM_011514302.2:c.3846C= XP_011512604.1:p.Tyr1282=
XM_017010250.1:c.4959C= XP_016865739.1:p.Tyr1653=
XM_017010251.2:c.3777C= XP_016865740.1:p.Tyr1259=
NM_080680.3:c.4959C= MANE Select NP_542411.2:p.Tyr1653=
NM_080681.3:c.4701C= NP_542412.2:p.Tyr1567=
NM_080679.3:c.4638C= NP_542410.2:p.Tyr1546=