Canonical Allele Identifier: CA1619892431

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33166512C= , CM000668.2:g.33166512C=	GRCh38
NC_000006.11:g.33134289C= , CM000668.1:g.33134289C=	GRCh37
NC_000006.10:g.33242267C=	NCBI36
NG_011589.1:g.30957G=

Transcript Alleles

HGVS	Amino-acid Change
NM_080680.3:c.4392+1G= MANE Select	NP_542411.2:n.4392+1G=
ENST00000341947.7:c.4392+1G= MANE Select	ENSP00000339915.2:n.4392+1G=
NM_080679.2:c.4071+1G=	NP_542410.2:n.4071+1G=
NM_080679.3:c.4071+1G=	NP_542410.2:n.4071+1G=
NM_080680.2:c.4392+1G=	NP_542411.2:n.4392+1G=
NM_080681.2:c.4134+1G=	NP_542412.2:n.4134+1G=
NM_080681.3:c.4134+1G=	NP_542412.2:n.4134+1G=
ENST00000341947.6:c.4392+1G=	ENSP00000339915.2:n.4392+1G=
ENST00000361917.5:c.4071+1G=	ENSP00000355123.1:n.4071+1G=
ENST00000374708.8:c.4134+1G=	ENSP00000363840.4:n.4134+1G=
ENST00000477772.1:n.273-696G=
ENST00000683572.1:n.234+279G=
XM_011514298.1:c.3546+1G=	XP_011512600.1:n.3546+1G=
XM_011514299.1:c.3678+1G=	XP_011512601.1:n.3678+1G=
XM_011514299.2:c.3678+1G=	XP_011512601.1:n.3678+1G=
XM_011514300.1:c.3498+1G=	XP_011512602.1:n.3498+1G=
XM_011514300.2:c.3498+1G=	XP_011512602.1:n.3498+1G=
XM_011514301.1:c.3435+1G=	XP_011512603.1:n.3435+1G=
XM_011514302.1:c.3279+1G=	XP_011512604.1:n.3279+1G=
XM_011514302.2:c.3279+1G=	XP_011512604.1:n.3279+1G=
XM_017010250.1:c.4392+1G=	XP_016865739.1:n.4392+1G=
XM_017010251.2:c.3210+1G=	XP_016865740.1:n.3210+1G=