Canonical Allele Identifier: CA3750984

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33176030C>T , CM000668.2:g.33176030C>T	GRCh38
NC_000006.11:g.33143807C>T , CM000668.1:g.33143807C>T	GRCh37
NC_000006.10:g.33251785C>T	NCBI36
NG_011589.1:g.21439G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_080680.3:c.2254G>A MANE Select	NP_542411.2:p.Val752Met
ENST00000341947.7:c.2254G>A MANE Select	ENSP00000339915.2:p.Val752Met
NM_080679.2:c.1933G>A	NP_542410.2:p.Val645Met
NM_080679.3:c.1933G>A	NP_542410.2:p.Val645Met
NM_080680.2:c.2254G>A	NP_542411.2:p.Val752Met
NM_080681.2:c.1996G>A	NP_542412.2:p.Val666Met
NM_080681.3:c.1996G>A	NP_542412.2:p.Val666Met
ENST00000341947.6:c.2254G>A	ENSP00000339915.2:p.Val752Met
ENST00000361917.5:c.1933G>A	ENSP00000355123.1:p.Val645Met
ENST00000361917.6:c.827G>A
ENST00000374708.8:c.1996G>A	ENSP00000363840.4:p.Val666Met
ENST00000477772.1:n.272+979G>A
XM_011514298.1:c.1408G>A	XP_011512600.1:p.Val470Met
XM_011514299.1:c.1540G>A	XP_011512601.1:p.Val514Met
XM_011514299.2:c.1540G>A	XP_011512601.1:p.Val514Met
XM_011514300.1:c.1360G>A	XP_011512602.1:p.Val454Met
XM_011514300.2:c.1360G>A	XP_011512602.1:p.Val454Met
XM_011514301.1:c.1297G>A	XP_011512603.1:p.Val433Met
XM_011514302.1:c.1141G>A	XP_011512604.1:p.Val381Met
XM_011514302.2:c.1141G>A	XP_011512604.1:p.Val381Met
XM_017010250.1:c.2254G>A	XP_016865739.1:p.Val752Met
XM_017010251.2:c.1072G>A	XP_016865740.1:p.Val358Met