Canonical Allele Identifier: CA175569

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33176287C>T , CM000668.2:g.33176287C>T	GRCh38
NC_000006.11:g.33144064C>T , CM000668.1:g.33144064C>T	GRCh37
NC_000006.10:g.33252042C>T	NCBI36
NG_011589.1:g.21182G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361917.6:c.759G>A
ENST00000341947.7:c.2186G>A MANE Select	ENSP00000339915.2:p.Arg729Gln
ENST00000341947.6:c.2186G>A	ENSP00000339915.2:p.Arg729Gln
ENST00000361917.5:c.1865G>A	ENSP00000355123.1:p.Arg622Gln
ENST00000374708.8:c.1928G>A	ENSP00000363840.4:p.Arg643Gln
ENST00000477772.1:n.272+722G>A
NM_080679.2:c.1865G>A	NP_542410.2:p.Arg622Gln
NM_080680.2:c.2186G>A	NP_542411.2:p.Arg729Gln
NM_080681.2:c.1928G>A	NP_542412.2:p.Arg643Gln
XM_011514298.1:c.1340G>A	XP_011512600.1:p.Arg447Gln
XM_011514299.1:c.1472G>A	XP_011512601.1:p.Arg491Gln
XM_011514300.1:c.1292G>A	XP_011512602.1:p.Arg431Gln
XM_011514301.1:c.1229G>A	XP_011512603.1:p.Arg410Gln
XM_011514302.1:c.1073G>A	XP_011512604.1:p.Arg358Gln
XM_011514299.2:c.1472G>A	XP_011512601.1:p.Arg491Gln
XM_011514300.2:c.1292G>A	XP_011512602.1:p.Arg431Gln
XM_011514302.2:c.1073G>A	XP_011512604.1:p.Arg358Gln
XM_017010250.1:c.2186G>A	XP_016865739.1:p.Arg729Gln
XM_017010251.2:c.1004G>A	XP_016865740.1:p.Arg335Gln
NM_080680.3:c.2186G>A MANE Select	NP_542411.2:p.Arg729Gln
NM_080681.3:c.1928G>A	NP_542412.2:p.Arg643Gln
NM_080679.3:c.1865G>A	NP_542410.2:p.Arg622Gln