Canonical Allele Identifier: CA137051911

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33179766C>T , CM000668.2:g.33179766C>T	GRCh38
NC_000006.11:g.33147543C>T , CM000668.1:g.33147543C>T	GRCh37
NC_000006.10:g.33255521C>T	NCBI36
NG_011589.1:g.17703G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_080680.3:c.1399G>A MANE Select	NP_542411.2:p.Val467Met
ENST00000341947.7:c.1399G>A MANE Select	ENSP00000339915.2:p.Val467Met
NM_080679.2:c.1078G>A	NP_542410.2:p.Val360Met
NM_080679.3:c.1078G>A	NP_542410.2:p.Val360Met
NM_080680.2:c.1399G>A	NP_542411.2:p.Val467Met
NM_080681.2:c.1141G>A	NP_542412.2:p.Val381Met
NM_080681.3:c.1141G>A	NP_542412.2:p.Val381Met
ENST00000341947.6:c.1399G>A	ENSP00000339915.2:p.Val467Met
ENST00000361917.5:c.1078G>A	ENSP00000355123.1:p.Val360Met
ENST00000361917.6:c.26G>A
ENST00000374708.8:c.1141G>A	ENSP00000363840.4:p.Val381Met
ENST00000457788.5:c.1399G>A	ENSP00000405520.1:p.Val467Met
XM_011514298.1:c.553G>A	XP_011512600.1:p.Val185Met
XM_011514299.1:c.685G>A	XP_011512601.1:p.Val229Met
XM_011514299.2:c.685G>A	XP_011512601.1:p.Val229Met
XM_011514300.1:c.505G>A	XP_011512602.1:p.Val169Met
XM_011514300.2:c.505G>A	XP_011512602.1:p.Val169Met
XM_011514301.1:c.442G>A	XP_011512603.1:p.Val148Met
XM_011514302.1:c.286G>A	XP_011512604.1:p.Val96Met
XM_011514302.2:c.286G>A	XP_011512604.1:p.Val96Met
XM_017010250.1:c.1399G>A	XP_016865739.1:p.Val467Met
XM_017010251.2:c.217G>A	XP_016865740.1:p.Val73Met