Canonical Allele Identifier: CA16605527

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33171721C>T , CM000668.2:g.33171721C>T	GRCh38
NC_000006.11:g.33139498C>T , CM000668.1:g.33139498C>T	GRCh37
NC_000006.10:g.33247476C>T	NCBI36
NG_011589.1:g.25748G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_080680.3:c.3142G>A MANE Select	NP_542411.2:p.Gly1048Ser
ENST00000341947.7:c.3142G>A MANE Select	ENSP00000339915.2:p.Gly1048Ser
NM_080679.2:c.2821G>A	NP_542410.2:p.Gly941Ser
NM_080679.3:c.2821G>A	NP_542410.2:p.Gly941Ser
NM_080680.2:c.3142G>A	NP_542411.2:p.Gly1048Ser
NM_080681.2:c.2884G>A	NP_542412.2:p.Gly962Ser
NM_080681.3:c.2884G>A	NP_542412.2:p.Gly962Ser
ENST00000341947.6:c.3142G>A	ENSP00000339915.2:p.Gly1048Ser
ENST00000361917.5:c.2821G>A	ENSP00000355123.1:p.Gly941Ser
ENST00000374708.8:c.2884G>A	ENSP00000363840.4:p.Gly962Ser
ENST00000477772.1:n.272+5288G>A
XM_011514298.1:c.2296G>A	XP_011512600.1:p.Gly766Ser
XM_011514299.1:c.2428G>A	XP_011512601.1:p.Gly810Ser
XM_011514299.2:c.2428G>A	XP_011512601.1:p.Gly810Ser
XM_011514300.1:c.2248G>A	XP_011512602.1:p.Gly750Ser
XM_011514300.2:c.2248G>A	XP_011512602.1:p.Gly750Ser
XM_011514301.1:c.2185G>A	XP_011512603.1:p.Gly729Ser
XM_011514302.1:c.2029G>A	XP_011512604.1:p.Gly677Ser
XM_011514302.2:c.2029G>A	XP_011512604.1:p.Gly677Ser
XM_017010250.1:c.3142G>A	XP_016865739.1:p.Gly1048Ser
XM_017010251.2:c.1960G>A	XP_016865740.1:p.Gly654Ser