Canonical Allele Identifier: CA137071091

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33176069C>T , CM000668.2:g.33176069C>T	GRCh38
NC_000006.11:g.33143846C>T , CM000668.1:g.33143846C>T	GRCh37
NC_000006.10:g.33251824C>T	NCBI36
NG_011589.1:g.21400G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_080680.3:c.2215G>A MANE Select	NP_542411.2:p.Gly739Ser
ENST00000341947.7:c.2215G>A MANE Select	ENSP00000339915.2:p.Gly739Ser
NM_080679.2:c.1894G>A	NP_542410.2:p.Gly632Ser
NM_080679.3:c.1894G>A	NP_542410.2:p.Gly632Ser
NM_080680.2:c.2215G>A	NP_542411.2:p.Gly739Ser
NM_080681.2:c.1957G>A	NP_542412.2:p.Gly653Ser
NM_080681.3:c.1957G>A	NP_542412.2:p.Gly653Ser
ENST00000341947.6:c.2215G>A	ENSP00000339915.2:p.Gly739Ser
ENST00000361917.5:c.1894G>A	ENSP00000355123.1:p.Gly632Ser
ENST00000361917.6:c.788G>A
ENST00000374708.8:c.1957G>A	ENSP00000363840.4:p.Gly653Ser
ENST00000477772.1:n.272+940G>A
XM_011514298.1:c.1369G>A	XP_011512600.1:p.Gly457Ser
XM_011514299.1:c.1501G>A	XP_011512601.1:p.Gly501Ser
XM_011514299.2:c.1501G>A	XP_011512601.1:p.Gly501Ser
XM_011514300.1:c.1321G>A	XP_011512602.1:p.Gly441Ser
XM_011514300.2:c.1321G>A	XP_011512602.1:p.Gly441Ser
XM_011514301.1:c.1258G>A	XP_011512603.1:p.Gly420Ser
XM_011514302.1:c.1102G>A	XP_011512604.1:p.Gly368Ser
XM_011514302.2:c.1102G>A	XP_011512604.1:p.Gly368Ser
XM_017010250.1:c.2215G>A	XP_016865739.1:p.Gly739Ser
XM_017010251.2:c.1033G>A	XP_016865740.1:p.Gly345Ser