Canonical Allele Identifier: CA920320769

Gene: COL6A2

Linked Data

• dbSNP Id: rs1601221308

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46113621_46113624del , CM000683.2:g.46113621_46113624del	GRCh38
NC_000021.8:g.47533535_47533538del , CM000683.1:g.47533535_47533538del	GRCh37
NC_000021.7:g.46357963_46357966del	NCBI36
NG_008675.1:g.20503_20506del , LRG_476:g.20503_20506del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.736-387_736-384del MANE Plus Clinical	ENSP00000380870.1:n.736-387_736-384del
ENST00000300527.9:c.736-387_736-384del MANE Select	ENSP00000300527.4:n.736-387_736-384del
ENST00000409416.6:c.736-387_736-384del	ENSP00000387115.1:n.736-387_736-384del
ENST00000300527.8:c.736-387_736-384del	ENSP00000300527.4:n.736-387_736-384del
ENST00000310645.9:c.736-387_736-384del	ENSP00000312529.5:n.736-387_736-384del
ENST00000397763.5:c.736-387_736-384del	ENSP00000380870.1:n.736-387_736-384del
ENST00000409416.5:c.736-387_736-384del	ENSP00000387115.1:n.736-387_736-384del
ENST00000485591.1:n.5_8del
NM_001849.3:c.736-387_736-384del , LRG_476t1:c.736-387_736-384del	NP_001840.3:n.736-387_736-384del
NM_058174.2:c.736-387_736-384del	NP_478054.2:n.736-387_736-384del
NM_058175.2:c.736-387_736-384del	NP_478055.2:n.736-387_736-384del
XM_011529451.1:c.736-387_736-384del	XP_011527753.1:n.736-387_736-384del
XM_011529452.1:c.736-387_736-384del	XP_011527754.1:n.736-387_736-384del
XR_937438.1:n.859-387_859-384del
XR_937439.1:n.859-387_859-384del
XR_937438.2:n.866-387_866-384del
XR_937439.2:n.866-387_866-384del
NM_001849.4:c.736-387_736-384del MANE Select	NP_001840.3:n.736-387_736-384del
NM_058174.3:c.736-387_736-384del MANE Plus Clinical	NP_478054.2:n.736-387_736-384del
NM_058175.3:c.736-387_736-384del	NP_478055.2:n.736-387_736-384del