Canonical Allele Identifier: CA1619890530

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164918G= , CM000668.2:g.33164918G=	GRCh38
NC_000006.11:g.33132695G= , CM000668.1:g.33132695G=	GRCh37
NC_000006.10:g.33240673G=	NCBI36
NG_011589.1:g.32551C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.603C=
ENST00000341947.7:c.4797C= MANE Select	ENSP00000339915.2:p.Phe1599=
ENST00000341947.6:c.4797C=	ENSP00000339915.2:p.Phe1599=
ENST00000361917.5:c.4476C=	ENSP00000355123.1:p.Phe1492=
ENST00000374708.8:c.4539C=	ENSP00000363840.4:p.Phe1513=
ENST00000477772.1:n.587C=
NM_080679.2:c.4476C=	NP_542410.2:p.Phe1492=
NM_080680.2:c.4797C=	NP_542411.2:p.Phe1599=
NM_080681.2:c.4539C=	NP_542412.2:p.Phe1513=
XM_011514298.1:c.3951C=	XP_011512600.1:p.Phe1317=
XM_011514299.1:c.4083C=	XP_011512601.1:p.Phe1361=
XM_011514300.1:c.3903C=	XP_011512602.1:p.Phe1301=
XM_011514301.1:c.3840C=	XP_011512603.1:p.Phe1280=
XM_011514302.1:c.3684C=	XP_011512604.1:p.Phe1228=
XM_011514299.2:c.4083C=	XP_011512601.1:p.Phe1361=
XM_011514300.2:c.3903C=	XP_011512602.1:p.Phe1301=
XM_011514302.2:c.3684C=	XP_011512604.1:p.Phe1228=
XM_017010250.1:c.4797C=	XP_016865739.1:p.Phe1599=
XM_017010251.2:c.3615C=	XP_016865740.1:p.Phe1205=
NM_080680.3:c.4797C= MANE Select	NP_542411.2:p.Phe1599=
NM_080681.3:c.4539C=	NP_542412.2:p.Phe1513=
NM_080679.3:c.4476C=	NP_542410.2:p.Phe1492=