Canonical Allele Identifier: CA1619899919
Community Standard Title: NM_080680.3(COL11A2):c.1861C= (p.Pro621=)
Gene: COL11A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33178143G= , CM000668.2:g.33178143G= GRCh38
NC_000006.11:g.33145920G= , CM000668.1:g.33145920G= GRCh37
NC_000006.10:g.33253898G= NCBI36
NG_011589.1:g.19326C=

Transcript Alleles

HGVS Amino-acid Change
NM_080680.3:c.1861C= MANE Select NP_542411.2:p.Pro621=
ENST00000341947.7:c.1861C= MANE Select ENSP00000339915.2:p.Pro621=
NM_080679.2:c.1540C= NP_542410.2:p.Pro514=
NM_080679.3:c.1540C= NP_542410.2:p.Pro514=
NM_080680.2:c.1861C= NP_542411.2:p.Pro621=
NM_080681.2:c.1603C= NP_542412.2:p.Pro535=
NM_080681.3:c.1603C= NP_542412.2:p.Pro535=
ENST00000341947.6:c.1861C= ENSP00000339915.2:p.Pro621=
ENST00000361917.5:c.1540C= ENSP00000355123.1:p.Pro514=
ENST00000361917.6:c.445+165C=
ENST00000374708.8:c.1603C= ENSP00000363840.4:p.Pro535=
ENST00000457788.5:c.1861C= ENSP00000405520.1:p.Pro621=
XM_011514298.1:c.1015C= XP_011512600.1:p.Pro339=
XM_011514299.1:c.1147C= XP_011512601.1:p.Pro383=
XM_011514299.2:c.1147C= XP_011512601.1:p.Pro383=
XM_011514300.1:c.967C= XP_011512602.1:p.Pro323=
XM_011514300.2:c.967C= XP_011512602.1:p.Pro323=
XM_011514301.1:c.904C= XP_011512603.1:p.Pro302=
XM_011514302.1:c.748C= XP_011512604.1:p.Pro250=
XM_011514302.2:c.748C= XP_011512604.1:p.Pro250=
XM_017010250.1:c.1861C= XP_016865739.1:p.Pro621=
XM_017010251.2:c.679C= XP_016865740.1:p.Pro227=