Canonical Allele Identifier: CA3751248

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33178700G>A , CM000668.2:g.33178700G>A	GRCh38
NC_000006.11:g.33146477G>A , CM000668.1:g.33146477G>A	GRCh37
NC_000006.10:g.33254455G>A	NCBI36
NG_011589.1:g.18769C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_080680.3:c.1698C>T MANE Select	NP_542411.2:p.Leu566=
ENST00000341947.7:c.1698C>T MANE Select	ENSP00000339915.2:p.Leu566=
NM_080679.2:c.1377C>T	NP_542410.2:p.Leu459=
NM_080679.3:c.1377C>T	NP_542410.2:p.Leu459=
NM_080680.2:c.1698C>T	NP_542411.2:p.Leu566=
NM_080681.2:c.1440C>T	NP_542412.2:p.Leu480=
NM_080681.3:c.1440C>T	NP_542412.2:p.Leu480=
ENST00000341947.6:c.1698C>T	ENSP00000339915.2:p.Leu566=
ENST00000361917.5:c.1377C>T	ENSP00000355123.1:p.Leu459=
ENST00000361917.6:c.325C>T
ENST00000374708.8:c.1440C>T	ENSP00000363840.4:p.Leu480=
ENST00000457788.5:c.1698C>T	ENSP00000405520.1:p.Leu566=
XM_011514298.1:c.852C>T	XP_011512600.1:p.Leu284=
XM_011514299.1:c.984C>T	XP_011512601.1:p.Leu328=
XM_011514299.2:c.984C>T	XP_011512601.1:p.Leu328=
XM_011514300.1:c.804C>T	XP_011512602.1:p.Leu268=
XM_011514300.2:c.804C>T	XP_011512602.1:p.Leu268=
XM_011514301.1:c.741C>T	XP_011512603.1:p.Leu247=
XM_011514302.1:c.585C>T	XP_011512604.1:p.Leu195=
XM_011514302.2:c.585C>T	XP_011512604.1:p.Leu195=
XM_017010250.1:c.1698C>T	XP_016865739.1:p.Leu566=
XM_017010251.2:c.516C>T	XP_016865740.1:p.Leu172=