Canonical Allele Identifier: CA1619891841
Community Standard Title: NM_080680.3(COL11A2):c.4430G= (p.Gly1477=)
Gene: COL11A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33165983C= , CM000668.2:g.33165983C= GRCh38
NC_000006.11:g.33133760C= , CM000668.1:g.33133760C= GRCh37
NC_000006.10:g.33241738C= NCBI36
NG_011589.1:g.31486G=

Transcript Alleles

HGVS Amino-acid Change
NM_080680.3:c.4430G= MANE Select NP_542411.2:p.Gly1477=
ENST00000341947.7:c.4430G= MANE Select ENSP00000339915.2:p.Gly1477=
NM_080679.2:c.4109G= NP_542410.2:p.Gly1370=
NM_080679.3:c.4109G= NP_542410.2:p.Gly1370=
NM_080680.2:c.4430G= NP_542411.2:p.Gly1477=
NM_080681.2:c.4172G= NP_542412.2:p.Gly1391=
NM_080681.3:c.4172G= NP_542412.2:p.Gly1391=
ENST00000341947.6:c.4430G= ENSP00000339915.2:p.Gly1477=
ENST00000361917.5:c.4109G= ENSP00000355123.1:p.Gly1370=
ENST00000374708.8:c.4172G= ENSP00000363840.4:p.Gly1391=
ENST00000477772.1:n.273-167G=
ENST00000683572.1:n.236G=
XM_011514298.1:c.3584G= XP_011512600.1:p.Gly1195=
XM_011514299.1:c.3716G= XP_011512601.1:p.Gly1239=
XM_011514299.2:c.3716G= XP_011512601.1:p.Gly1239=
XM_011514300.1:c.3536G= XP_011512602.1:p.Gly1179=
XM_011514300.2:c.3536G= XP_011512602.1:p.Gly1179=
XM_011514301.1:c.3473G= XP_011512603.1:p.Gly1158=
XM_011514302.1:c.3317G= XP_011512604.1:p.Gly1106=
XM_011514302.2:c.3317G= XP_011512604.1:p.Gly1106=
XM_017010250.1:c.4430G= XP_016865739.1:p.Gly1477=
XM_017010251.2:c.3248G= XP_016865740.1:p.Gly1083=