Canonical Allele Identifier: CA363609648

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33153528C>A (hg19) ; chr6:g.33185751C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33185751C>A , CM000668.2:g.33185751C>A	GRCh38
NC_000006.11:g.33153528C>A , CM000668.1:g.33153528C>A	GRCh37
NC_000006.10:g.33261506C>A	NCBI36
NG_011589.1:g.11718G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682718.1:n.643G>T
ENST00000341947.7:c.826G>T MANE Select	ENSP00000339915.2:p.Glu276Ter
ENST00000341947.6:c.826G>T	ENSP00000339915.2:p.Glu276Ter
ENST00000361917.5:c.798+876G>T	ENSP00000355123.1:n.798+876G>T
ENST00000374708.8:c.799-697G>T	ENSP00000363840.4:n.799-697G>T
ENST00000457788.5:c.826G>T	ENSP00000405520.1:p.Glu276Ter
NM_080679.2:c.798+876G>T	NP_542410.2:n.798+876G>T
NM_080680.2:c.826G>T	NP_542411.2:p.Glu276Ter
NM_080681.2:c.799-697G>T	NP_542412.2:n.799-697G>T
XM_011514298.1:c.-21G>T	XP_011512600.1:n.-21G>T
XM_017010250.1:c.826G>T	XP_016865739.1:p.Glu276Ter
NM_080680.3:c.826G>T MANE Select	NP_542411.2:p.Glu276Ter
NM_080681.3:c.799-697G>T	NP_542412.2:n.799-697G>T
NM_080679.3:c.798+876G>T	NP_542410.2:n.798+876G>T