Canonical Allele Identifier: CA1619890586

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164942G= , CM000668.2:g.33164942G=	GRCh38
NC_000006.11:g.33132719G= , CM000668.1:g.33132719G=	GRCh37
NC_000006.10:g.33240697G=	NCBI36
NG_011589.1:g.32527C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.579C=
ENST00000341947.7:c.4773C= MANE Select	ENSP00000339915.2:p.Asn1591=
ENST00000341947.6:c.4773C=	ENSP00000339915.2:p.Asn1591=
ENST00000361917.5:c.4452C=	ENSP00000355123.1:p.Asn1484=
ENST00000374708.8:c.4515C=	ENSP00000363840.4:p.Asn1505=
ENST00000477772.1:n.563C=
NM_080679.2:c.4452C=	NP_542410.2:p.Asn1484=
NM_080680.2:c.4773C=	NP_542411.2:p.Asn1591=
NM_080681.2:c.4515C=	NP_542412.2:p.Asn1505=
XM_011514298.1:c.3927C=	XP_011512600.1:p.Asn1309=
XM_011514299.1:c.4059C=	XP_011512601.1:p.Asn1353=
XM_011514300.1:c.3879C=	XP_011512602.1:p.Asn1293=
XM_011514301.1:c.3816C=	XP_011512603.1:p.Asn1272=
XM_011514302.1:c.3660C=	XP_011512604.1:p.Asn1220=
XM_011514299.2:c.4059C=	XP_011512601.1:p.Asn1353=
XM_011514300.2:c.3879C=	XP_011512602.1:p.Asn1293=
XM_011514302.2:c.3660C=	XP_011512604.1:p.Asn1220=
XM_017010250.1:c.4773C=	XP_016865739.1:p.Asn1591=
XM_017010251.2:c.3591C=	XP_016865740.1:p.Asn1197=
NM_080680.3:c.4773C= MANE Select	NP_542411.2:p.Asn1591=
NM_080681.3:c.4515C=	NP_542412.2:p.Asn1505=
NM_080679.3:c.4452C=	NP_542410.2:p.Asn1484=