Canonical Allele Identifier: CA363617370
Gene: COL11A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33164854G>A , CM000668.2:g.33164854G>A GRCh38
NC_000006.11:g.33132631G>A , CM000668.1:g.33132631G>A GRCh37
NC_000006.10:g.33240609G>A NCBI36
NG_011589.1:g.32615C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000683572.1:n.667C>T
ENST00000341947.7:c.4861C>T MANE Select ENSP00000339915.2:p.Gln1621Ter
ENST00000341947.6:c.4861C>T ENSP00000339915.2:p.Gln1621Ter
ENST00000361917.5:c.4540C>T ENSP00000355123.1:p.Gln1514Ter
ENST00000374708.8:c.4603C>T ENSP00000363840.4:p.Gln1535Ter
ENST00000477772.1:n.651C>T
NM_080679.2:c.4540C>T NP_542410.2:p.Gln1514Ter
NM_080680.2:c.4861C>T NP_542411.2:p.Gln1621Ter
NM_080681.2:c.4603C>T NP_542412.2:p.Gln1535Ter
XM_011514298.1:c.4015C>T XP_011512600.1:p.Gln1339Ter
XM_011514299.1:c.4147C>T XP_011512601.1:p.Gln1383Ter
XM_011514300.1:c.3967C>T XP_011512602.1:p.Gln1323Ter
XM_011514301.1:c.3904C>T XP_011512603.1:p.Gln1302Ter
XM_011514302.1:c.3748C>T XP_011512604.1:p.Gln1250Ter
XM_011514299.2:c.4147C>T XP_011512601.1:p.Gln1383Ter
XM_011514300.2:c.3967C>T XP_011512602.1:p.Gln1323Ter
XM_011514302.2:c.3748C>T XP_011512604.1:p.Gln1250Ter
XM_017010250.1:c.4861C>T XP_016865739.1:p.Gln1621Ter
XM_017010251.2:c.3679C>T XP_016865740.1:p.Gln1227Ter
NM_080680.3:c.4861C>T MANE Select NP_542411.2:p.Gln1621Ter
NM_080681.3:c.4603C>T NP_542412.2:p.Gln1535Ter
NM_080679.3:c.4540C>T NP_542410.2:p.Gln1514Ter