Canonical Allele Identifier: CA1619893835
Community Standard Title: NM_080680.3(COL11A2):c.3991C= (p.Arg1331=)
Gene: COL11A2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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