Canonical Allele Identifier: CA363619497

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33165948C>T , CM000668.2:g.33165948C>T	GRCh38
NC_000006.11:g.33133725C>T , CM000668.1:g.33133725C>T	GRCh37
NC_000006.10:g.33241703C>T	NCBI36
NG_011589.1:g.31521G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_080680.3:c.4465G>A MANE Select	NP_542411.2:p.Gly1489Ser
ENST00000341947.7:c.4465G>A MANE Select	ENSP00000339915.2:p.Gly1489Ser
NM_080679.2:c.4144G>A	NP_542410.2:p.Gly1382Ser
NM_080679.3:c.4144G>A	NP_542410.2:p.Gly1382Ser
NM_080680.2:c.4465G>A	NP_542411.2:p.Gly1489Ser
NM_080681.2:c.4207G>A	NP_542412.2:p.Gly1403Ser
NM_080681.3:c.4207G>A	NP_542412.2:p.Gly1403Ser
ENST00000341947.6:c.4465G>A	ENSP00000339915.2:p.Gly1489Ser
ENST00000361917.5:c.4144G>A	ENSP00000355123.1:p.Gly1382Ser
ENST00000374708.8:c.4207G>A	ENSP00000363840.4:p.Gly1403Ser
ENST00000477772.1:n.273-132G>A
ENST00000683572.1:n.271G>A
XM_011514298.1:c.3619G>A	XP_011512600.1:p.Gly1207Ser
XM_011514299.1:c.3751G>A	XP_011512601.1:p.Gly1251Ser
XM_011514299.2:c.3751G>A	XP_011512601.1:p.Gly1251Ser
XM_011514300.1:c.3571G>A	XP_011512602.1:p.Gly1191Ser
XM_011514300.2:c.3571G>A	XP_011512602.1:p.Gly1191Ser
XM_011514301.1:c.3508G>A	XP_011512603.1:p.Gly1170Ser
XM_011514302.1:c.3352G>A	XP_011512604.1:p.Gly1118Ser
XM_011514302.2:c.3352G>A	XP_011512604.1:p.Gly1118Ser
XM_017010250.1:c.4465G>A	XP_016865739.1:p.Gly1489Ser
XM_017010251.2:c.3283G>A	XP_016865740.1:p.Gly1095Ser