Canonical Allele Identifier: CA1619889812

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164420G= , CM000668.2:g.33164420G=	GRCh38
NC_000006.11:g.33132197G= , CM000668.1:g.33132197G=	GRCh37
NC_000006.10:g.33240175G=	NCBI36
NG_011589.1:g.33049C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.723C=
ENST00000341947.7:c.4917C= MANE Select	ENSP00000339915.2:p.Phe1639=
ENST00000341947.6:c.4917C=	ENSP00000339915.2:p.Phe1639=
ENST00000361917.5:c.4596C=	ENSP00000355123.1:p.Phe1532=
ENST00000374708.8:c.4659C=	ENSP00000363840.4:p.Phe1553=
ENST00000477772.1:n.707C=
NM_080679.2:c.4596C=	NP_542410.2:p.Phe1532=
NM_080680.2:c.4917C=	NP_542411.2:p.Phe1639=
NM_080681.2:c.4659C=	NP_542412.2:p.Phe1553=
XM_011514298.1:c.4071C=	XP_011512600.1:p.Phe1357=
XM_011514299.1:c.4203C=	XP_011512601.1:p.Phe1401=
XM_011514300.1:c.4023C=	XP_011512602.1:p.Phe1341=
XM_011514301.1:c.3960C=	XP_011512603.1:p.Phe1320=
XM_011514302.1:c.3804C=	XP_011512604.1:p.Phe1268=
XM_011514299.2:c.4203C=	XP_011512601.1:p.Phe1401=
XM_011514300.2:c.4023C=	XP_011512602.1:p.Phe1341=
XM_011514302.2:c.3804C=	XP_011512604.1:p.Phe1268=
XM_017010250.1:c.4917C=	XP_016865739.1:p.Phe1639=
XM_017010251.2:c.3735C=	XP_016865740.1:p.Phe1245=
NM_080680.3:c.4917C= MANE Select	NP_542411.2:p.Phe1639=
NM_080681.3:c.4659C=	NP_542412.2:p.Phe1553=
NM_080679.3:c.4596C=	NP_542410.2:p.Phe1532=