Canonical Allele Identifier: CA3751295

Gene: COL11A2

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361917.6:c.234G>T
ENST00000341947.7:c.1607G>T MANE Select	ENSP00000339915.2:p.Arg536Leu
ENST00000341947.6:c.1607G>T	ENSP00000339915.2:p.Arg536Leu
ENST00000361917.5:c.1286G>T	ENSP00000355123.1:p.Arg429Leu
ENST00000374708.8:c.1349G>T	ENSP00000363840.4:p.Arg450Leu
ENST00000457788.5:c.1607G>T	ENSP00000405520.1:p.Arg536Leu
NM_080679.2:c.1286G>T	NP_542410.2:p.Arg429Leu
NM_080680.2:c.1607G>T	NP_542411.2:p.Arg536Leu
NM_080681.2:c.1349G>T	NP_542412.2:p.Arg450Leu
XM_011514298.1:c.761G>T	XP_011512600.1:p.Arg254Leu
XM_011514299.1:c.893G>T	XP_011512601.1:p.Arg298Leu
XM_011514300.1:c.713G>T	XP_011512602.1:p.Arg238Leu
XM_011514301.1:c.650G>T	XP_011512603.1:p.Arg217Leu
XM_011514302.1:c.494G>T	XP_011512604.1:p.Arg165Leu
XM_011514299.2:c.893G>T	XP_011512601.1:p.Arg298Leu
XM_011514300.2:c.713G>T	XP_011512602.1:p.Arg238Leu
XM_011514302.2:c.494G>T	XP_011512604.1:p.Arg165Leu
XM_017010250.1:c.1607G>T	XP_016865739.1:p.Arg536Leu
XM_017010251.2:c.425G>T	XP_016865740.1:p.Arg142Leu
NM_080680.3:c.1607G>T MANE Select	NP_542411.2:p.Arg536Leu
NM_080681.3:c.1349G>T	NP_542412.2:p.Arg450Leu
NM_080679.3:c.1286G>T	NP_542410.2:p.Arg429Leu