Canonical Allele Identifier: CA246924

Gene: COL11A2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33165647C>T , CM000668.2:g.33165647C>T	GRCh38
NC_000006.11:g.33133424C>T , CM000668.1:g.33133424C>T	GRCh37
NC_000006.10:g.33241402C>T	NCBI36
NG_011589.1:g.31822G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.458G>A
ENST00000341947.7:c.4652G>A MANE Select	ENSP00000339915.2:p.Arg1551Gln
ENST00000341947.6:c.4652G>A	ENSP00000339915.2:p.Arg1551Gln
ENST00000361917.5:c.4331G>A	ENSP00000355123.1:p.Arg1444Gln
ENST00000374708.8:c.4394G>A	ENSP00000363840.4:p.Arg1465Gln
ENST00000477772.1:n.442G>A
NM_080679.2:c.4331G>A	NP_542410.2:p.Arg1444Gln
NM_080680.2:c.4652G>A	NP_542411.2:p.Arg1551Gln
NM_080681.2:c.4394G>A	NP_542412.2:p.Arg1465Gln
XM_011514298.1:c.3806G>A	XP_011512600.1:p.Arg1269Gln
XM_011514299.1:c.3938G>A	XP_011512601.1:p.Arg1313Gln
XM_011514300.1:c.3758G>A	XP_011512602.1:p.Arg1253Gln
XM_011514301.1:c.3695G>A	XP_011512603.1:p.Arg1232Gln
XM_011514302.1:c.3539G>A	XP_011512604.1:p.Arg1180Gln
XM_011514299.2:c.3938G>A	XP_011512601.1:p.Arg1313Gln
XM_011514300.2:c.3758G>A	XP_011512602.1:p.Arg1253Gln
XM_011514302.2:c.3539G>A	XP_011512604.1:p.Arg1180Gln
XM_017010250.1:c.4652G>A	XP_016865739.1:p.Arg1551Gln
XM_017010251.2:c.3470G>A	XP_016865740.1:p.Arg1157Gln
NM_080680.3:c.4652G>A MANE Select	NP_542411.2:p.Arg1551Gln
NM_080681.3:c.4394G>A	NP_542412.2:p.Arg1465Gln
NM_080679.3:c.4331G>A	NP_542410.2:p.Arg1444Gln