Canonical Allele Identifier: CA236250

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33179077C>T , CM000668.2:g.33179077C>T	GRCh38
NC_000006.11:g.33146854C>T , CM000668.1:g.33146854C>T	GRCh37
NC_000006.10:g.33254832C>T	NCBI36
NG_011589.1:g.18392G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361917.6:c.234G>A
ENST00000341947.7:c.1607G>A MANE Select	ENSP00000339915.2:p.Arg536Gln
ENST00000341947.6:c.1607G>A	ENSP00000339915.2:p.Arg536Gln
ENST00000361917.5:c.1286G>A	ENSP00000355123.1:p.Arg429Gln
ENST00000374708.8:c.1349G>A	ENSP00000363840.4:p.Arg450Gln
ENST00000457788.5:c.1607G>A	ENSP00000405520.1:p.Arg536Gln
NM_080679.2:c.1286G>A	NP_542410.2:p.Arg429Gln
NM_080680.2:c.1607G>A	NP_542411.2:p.Arg536Gln
NM_080681.2:c.1349G>A	NP_542412.2:p.Arg450Gln
XM_011514298.1:c.761G>A	XP_011512600.1:p.Arg254Gln
XM_011514299.1:c.893G>A	XP_011512601.1:p.Arg298Gln
XM_011514300.1:c.713G>A	XP_011512602.1:p.Arg238Gln
XM_011514301.1:c.650G>A	XP_011512603.1:p.Arg217Gln
XM_011514302.1:c.494G>A	XP_011512604.1:p.Arg165Gln
XM_011514299.2:c.893G>A	XP_011512601.1:p.Arg298Gln
XM_011514300.2:c.713G>A	XP_011512602.1:p.Arg238Gln
XM_011514302.2:c.494G>A	XP_011512604.1:p.Arg165Gln
XM_017010250.1:c.1607G>A	XP_016865739.1:p.Arg536Gln
XM_017010251.2:c.425G>A	XP_016865740.1:p.Arg142Gln
NM_080680.3:c.1607G>A MANE Select	NP_542411.2:p.Arg536Gln
NM_080681.3:c.1349G>A	NP_542412.2:p.Arg450Gln
NM_080679.3:c.1286G>A	NP_542410.2:p.Arg429Gln