Canonical Allele Identifier: CA3750080

Gene: COL11A2

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.236G>T
ENST00000341947.7:c.4430G>T MANE Select	ENSP00000339915.2:p.Gly1477Val
ENST00000341947.6:c.4430G>T	ENSP00000339915.2:p.Gly1477Val
ENST00000361917.5:c.4109G>T	ENSP00000355123.1:p.Gly1370Val
ENST00000374708.8:c.4172G>T	ENSP00000363840.4:p.Gly1391Val
ENST00000477772.1:n.273-167G>T
NM_080679.2:c.4109G>T	NP_542410.2:p.Gly1370Val
NM_080680.2:c.4430G>T	NP_542411.2:p.Gly1477Val
NM_080681.2:c.4172G>T	NP_542412.2:p.Gly1391Val
XM_011514298.1:c.3584G>T	XP_011512600.1:p.Gly1195Val
XM_011514299.1:c.3716G>T	XP_011512601.1:p.Gly1239Val
XM_011514300.1:c.3536G>T	XP_011512602.1:p.Gly1179Val
XM_011514301.1:c.3473G>T	XP_011512603.1:p.Gly1158Val
XM_011514302.1:c.3317G>T	XP_011512604.1:p.Gly1106Val
XM_011514299.2:c.3716G>T	XP_011512601.1:p.Gly1239Val
XM_011514300.2:c.3536G>T	XP_011512602.1:p.Gly1179Val
XM_011514302.2:c.3317G>T	XP_011512604.1:p.Gly1106Val
XM_017010250.1:c.4430G>T	XP_016865739.1:p.Gly1477Val
XM_017010251.2:c.3248G>T	XP_016865740.1:p.Gly1083Val
NM_080680.3:c.4430G>T MANE Select	NP_542411.2:p.Gly1477Val
NM_080681.3:c.4172G>T	NP_542412.2:p.Gly1391Val
NM_080679.3:c.4109G>T	NP_542410.2:p.Gly1370Val