Canonical Allele Identifier: CA363619639

Gene: COL11A2

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.236G>A
ENST00000341947.7:c.4430G>A MANE Select	ENSP00000339915.2:p.Gly1477Asp
ENST00000341947.6:c.4430G>A	ENSP00000339915.2:p.Gly1477Asp
ENST00000361917.5:c.4109G>A	ENSP00000355123.1:p.Gly1370Asp
ENST00000374708.8:c.4172G>A	ENSP00000363840.4:p.Gly1391Asp
ENST00000477772.1:n.273-167G>A
NM_080679.2:c.4109G>A	NP_542410.2:p.Gly1370Asp
NM_080680.2:c.4430G>A	NP_542411.2:p.Gly1477Asp
NM_080681.2:c.4172G>A	NP_542412.2:p.Gly1391Asp
XM_011514298.1:c.3584G>A	XP_011512600.1:p.Gly1195Asp
XM_011514299.1:c.3716G>A	XP_011512601.1:p.Gly1239Asp
XM_011514300.1:c.3536G>A	XP_011512602.1:p.Gly1179Asp
XM_011514301.1:c.3473G>A	XP_011512603.1:p.Gly1158Asp
XM_011514302.1:c.3317G>A	XP_011512604.1:p.Gly1106Asp
XM_011514299.2:c.3716G>A	XP_011512601.1:p.Gly1239Asp
XM_011514300.2:c.3536G>A	XP_011512602.1:p.Gly1179Asp
XM_011514302.2:c.3317G>A	XP_011512604.1:p.Gly1106Asp
XM_017010250.1:c.4430G>A	XP_016865739.1:p.Gly1477Asp
XM_017010251.2:c.3248G>A	XP_016865740.1:p.Gly1083Asp
NM_080680.3:c.4430G>A MANE Select	NP_542411.2:p.Gly1477Asp
NM_080681.3:c.4172G>A	NP_542412.2:p.Gly1391Asp
NM_080679.3:c.4109G>A	NP_542410.2:p.Gly1370Asp