Canonical Allele Identifier: CA1619889650

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164340A= , CM000668.2:g.33164340A=	GRCh38
NC_000006.11:g.33132117A= , CM000668.1:g.33132117A=	GRCh37
NC_000006.10:g.33240095A=	NCBI36
NG_011589.1:g.33129T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.803T=
ENST00000341947.7:c.4997T= MANE Select	ENSP00000339915.2:p.Leu1666=
ENST00000341947.6:c.4997T=	ENSP00000339915.2:p.Leu1666=
ENST00000361917.5:c.4676T=	ENSP00000355123.1:p.Leu1559=
ENST00000374708.8:c.4739T=	ENSP00000363840.4:p.Leu1580=
ENST00000477772.1:n.787T=
NM_080679.2:c.4676T=	NP_542410.2:p.Leu1559=
NM_080680.2:c.4997T=	NP_542411.2:p.Leu1666=
NM_080681.2:c.4739T=	NP_542412.2:p.Leu1580=
XM_011514298.1:c.4151T=	XP_011512600.1:p.Leu1384=
XM_011514299.1:c.4283T=	XP_011512601.1:p.Leu1428=
XM_011514300.1:c.4103T=	XP_011512602.1:p.Leu1368=
XM_011514301.1:c.4040T=	XP_011512603.1:p.Leu1347=
XM_011514302.1:c.3884T=	XP_011512604.1:p.Leu1295=
XM_011514299.2:c.4283T=	XP_011512601.1:p.Leu1428=
XM_011514300.2:c.4103T=	XP_011512602.1:p.Leu1368=
XM_011514302.2:c.3884T=	XP_011512604.1:p.Leu1295=
XM_017010250.1:c.4997T=	XP_016865739.1:p.Leu1666=
XM_017010251.2:c.3815T=	XP_016865740.1:p.Leu1272=
NM_080680.3:c.4997T= MANE Select	NP_542411.2:p.Leu1666=
NM_080681.3:c.4739T=	NP_542412.2:p.Leu1580=
NM_080679.3:c.4676T=	NP_542410.2:p.Leu1559=