Canonical Allele Identifier: CA2711428177
Gene: COL11A2 HGNC NCBI

Linked Data

dbSNP Id: rs2150513442

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33164888dup , CM000668.2:g.33164888dup GRCh38
NC_000006.11:g.33132665dup , CM000668.1:g.33132665dup GRCh37
NC_000006.10:g.33240643dup NCBI36
NG_011589.1:g.32581dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000683572.1:n.633dup
ENST00000341947.7:c.4827dup MANE Select ENSP00000339915.2:p.Glu1610Ter
ENST00000341947.6:c.4827dup ENSP00000339915.2:p.Glu1610Ter
ENST00000361917.5:c.4506dup ENSP00000355123.1:p.Glu1503Ter
ENST00000374708.8:c.4569dup ENSP00000363840.4:p.Glu1524Ter
ENST00000477772.1:n.617dup
NM_080679.2:c.4506dup NP_542410.2:p.Glu1503Ter
NM_080680.2:c.4827dup NP_542411.2:p.Glu1610Ter
NM_080681.2:c.4569dup NP_542412.2:p.Glu1524Ter
XM_011514298.1:c.3981dup XP_011512600.1:p.Glu1328Ter
XM_011514299.1:c.4113dup XP_011512601.1:p.Glu1372Ter
XM_011514300.1:c.3933dup XP_011512602.1:p.Glu1312Ter
XM_011514301.1:c.3870dup XP_011512603.1:p.Glu1291Ter
XM_011514302.1:c.3714dup XP_011512604.1:p.Glu1239Ter
XM_011514299.2:c.4113dup XP_011512601.1:p.Glu1372Ter
XM_011514300.2:c.3933dup XP_011512602.1:p.Glu1312Ter
XM_011514302.2:c.3714dup XP_011512604.1:p.Glu1239Ter
XM_017010250.1:c.4827dup XP_016865739.1:p.Glu1610Ter
XM_017010251.2:c.3645dup XP_016865740.1:p.Glu1216Ter
NM_080680.3:c.4827dup MANE Select NP_542411.2:p.Glu1610Ter
NM_080681.3:c.4569dup NP_542412.2:p.Glu1524Ter
NM_080679.3:c.4506dup NP_542410.2:p.Glu1503Ter