Canonical Allele Identifier: CA3750280

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33167838C>T , CM000668.2:g.33167838C>T	GRCh38
NC_000006.11:g.33135615C>T , CM000668.1:g.33135615C>T	GRCh37
NC_000006.10:g.33243593C>T	NCBI36
NG_011589.1:g.29631G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3975G>A MANE Select	ENSP00000339915.2:p.Ser1325=
ENST00000341947.6:c.3975G>A	ENSP00000339915.2:p.Ser1325=
ENST00000361917.5:c.3654G>A	ENSP00000355123.1:p.Ser1218=
ENST00000374708.8:c.3717G>A	ENSP00000363840.4:p.Ser1239=
ENST00000477772.1:n.273-2022G>A
NM_080679.2:c.3654G>A	NP_542410.2:p.Ser1218=
NM_080680.2:c.3975G>A	NP_542411.2:p.Ser1325=
NM_080681.2:c.3717G>A	NP_542412.2:p.Ser1239=
XM_011514298.1:c.3129G>A	XP_011512600.1:p.Ser1043=
XM_011514299.1:c.3261G>A	XP_011512601.1:p.Ser1087=
XM_011514300.1:c.3081G>A	XP_011512602.1:p.Ser1027=
XM_011514301.1:c.3018G>A	XP_011512603.1:p.Ser1006=
XM_011514302.1:c.2862G>A	XP_011512604.1:p.Ser954=
XM_011514299.2:c.3261G>A	XP_011512601.1:p.Ser1087=
XM_011514300.2:c.3081G>A	XP_011512602.1:p.Ser1027=
XM_011514302.2:c.2862G>A	XP_011512604.1:p.Ser954=
XM_017010250.1:c.3975G>A	XP_016865739.1:p.Ser1325=
XM_017010251.2:c.2793G>A	XP_016865740.1:p.Ser931=
NM_080680.3:c.3975G>A MANE Select	NP_542411.2:p.Ser1325=
NM_080681.3:c.3717G>A	NP_542412.2:p.Ser1239=
NM_080679.3:c.3654G>A	NP_542410.2:p.Ser1218=