Canonical Allele Identifier: CA449870284
Gene: COL11A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33167822G>T , CM000668.2:g.33167822G>T GRCh38
NC_000006.11:g.33135599G>T , CM000668.1:g.33135599G>T GRCh37
NC_000006.10:g.33243577G>T NCBI36
NG_011589.1:g.29647C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000341947.7:c.3991C>A MANE Select ENSP00000339915.2:p.Arg1331=
ENST00000341947.6:c.3991C>A ENSP00000339915.2:p.Arg1331=
ENST00000361917.5:c.3670C>A ENSP00000355123.1:p.Arg1224=
ENST00000374708.8:c.3733C>A ENSP00000363840.4:p.Arg1245=
ENST00000477772.1:n.273-2006C>A
NM_080679.2:c.3670C>A NP_542410.2:p.Arg1224=
NM_080680.2:c.3991C>A NP_542411.2:p.Arg1331=
NM_080681.2:c.3733C>A NP_542412.2:p.Arg1245=
XM_011514298.1:c.3145C>A XP_011512600.1:p.Arg1049=
XM_011514299.1:c.3277C>A XP_011512601.1:p.Arg1093=
XM_011514300.1:c.3097C>A XP_011512602.1:p.Arg1033=
XM_011514301.1:c.3034C>A XP_011512603.1:p.Arg1012=
XM_011514302.1:c.2878C>A XP_011512604.1:p.Arg960=
XM_011514299.2:c.3277C>A XP_011512601.1:p.Arg1093=
XM_011514300.2:c.3097C>A XP_011512602.1:p.Arg1033=
XM_011514302.2:c.2878C>A XP_011512604.1:p.Arg960=
XM_017010250.1:c.3991C>A XP_016865739.1:p.Arg1331=
XM_017010251.2:c.2809C>A XP_016865740.1:p.Arg937=
NM_080680.3:c.3991C>A MANE Select NP_542411.2:p.Arg1331=
NM_080681.3:c.3733C>A NP_542412.2:p.Arg1245=
NM_080679.3:c.3670C>A NP_542410.2:p.Arg1224=