Canonical Allele Identifier: CA1619890517

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164907C= , CM000668.2:g.33164907C=	GRCh38
NC_000006.11:g.33132684C= , CM000668.1:g.33132684C=	GRCh37
NC_000006.10:g.33240662C=	NCBI36
NG_011589.1:g.32562G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.614G=
ENST00000341947.7:c.4808G= MANE Select	ENSP00000339915.2:p.Cys1603=
ENST00000341947.6:c.4808G=	ENSP00000339915.2:p.Cys1603=
ENST00000361917.5:c.4487G=	ENSP00000355123.1:p.Cys1496=
ENST00000374708.8:c.4550G=	ENSP00000363840.4:p.Cys1517=
ENST00000477772.1:n.598G=
NM_080679.2:c.4487G=	NP_542410.2:p.Cys1496=
NM_080680.2:c.4808G=	NP_542411.2:p.Cys1603=
NM_080681.2:c.4550G=	NP_542412.2:p.Cys1517=
XM_011514298.1:c.3962G=	XP_011512600.1:p.Cys1321=
XM_011514299.1:c.4094G=	XP_011512601.1:p.Cys1365=
XM_011514300.1:c.3914G=	XP_011512602.1:p.Cys1305=
XM_011514301.1:c.3851G=	XP_011512603.1:p.Cys1284=
XM_011514302.1:c.3695G=	XP_011512604.1:p.Cys1232=
XM_011514299.2:c.4094G=	XP_011512601.1:p.Cys1365=
XM_011514300.2:c.3914G=	XP_011512602.1:p.Cys1305=
XM_011514302.2:c.3695G=	XP_011512604.1:p.Cys1232=
XM_017010250.1:c.4808G=	XP_016865739.1:p.Cys1603=
XM_017010251.2:c.3626G=	XP_016865740.1:p.Cys1209=
NM_080680.3:c.4808G= MANE Select	NP_542411.2:p.Cys1603=
NM_080681.3:c.4550G=	NP_542412.2:p.Cys1517=
NM_080679.3:c.4487G=	NP_542410.2:p.Cys1496=