Canonical Allele Identifier: CA1022877176

Gene: COL6A2

Linked Data

• dbSNP Id: rs2078436029
• gnomAD v3: 21-46113821-TGA-T
• gnomAD v4: 21-46113821-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46113822_46113823del , CM000683.2:g.46113822_46113823del	GRCh38
NC_000021.8:g.47533736_47533737del , CM000683.1:g.47533736_47533737del	GRCh37
NC_000021.7:g.46358164_46358165del	NCBI36
NG_008675.1:g.20704_20705del , LRG_476:g.20704_20705del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.736-186_736-185del MANE Plus Clinical	ENSP00000380870.1:n.736-186_736-185del
ENST00000300527.9:c.736-186_736-185del MANE Select	ENSP00000300527.4:n.736-186_736-185del
ENST00000409416.6:c.736-186_736-185del	ENSP00000387115.1:n.736-186_736-185del
ENST00000300527.8:c.736-186_736-185del	ENSP00000300527.4:n.736-186_736-185del
ENST00000310645.9:c.736-186_736-185del	ENSP00000312529.5:n.736-186_736-185del
ENST00000397763.5:c.736-186_736-185del	ENSP00000380870.1:n.736-186_736-185del
ENST00000409416.5:c.736-186_736-185del	ENSP00000387115.1:n.736-186_736-185del
ENST00000485591.1:n.206_207del
NM_001849.3:c.736-186_736-185del , LRG_476t1:c.736-186_736-185del	NP_001840.3:n.736-186_736-185del
NM_058174.2:c.736-186_736-185del	NP_478054.2:n.736-186_736-185del
NM_058175.2:c.736-186_736-185del	NP_478055.2:n.736-186_736-185del
XM_011529451.1:c.736-186_736-185del	XP_011527753.1:n.736-186_736-185del
XM_011529452.1:c.736-186_736-185del	XP_011527754.1:n.736-186_736-185del
XR_937438.1:n.859-186_859-185del
XR_937439.1:n.859-186_859-185del
XR_937438.2:n.866-186_866-185del
XR_937439.2:n.866-186_866-185del
NM_001849.4:c.736-186_736-185del MANE Select	NP_001840.3:n.736-186_736-185del
NM_058174.3:c.736-186_736-185del MANE Plus Clinical	NP_478054.2:n.736-186_736-185del
NM_058175.3:c.736-186_736-185del	NP_478055.2:n.736-186_736-185del