Canonical Allele Identifier: CA2392507335

Gene: COL6A2

Linked Data

• dbSNP Id: rs2078647334

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125461_46125462insT , CM000683.2:g.46125461_46125462insT	GRCh38
NC_000021.8:g.47545375_47545376insT , CM000683.1:g.47545375_47545376insT	GRCh37
NC_000021.7:g.46369803_46369804insT	NCBI36
NG_008675.1:g.32343_32344insT , LRG_476:g.32343_32344insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1817-4_1817-3insT MANE Plus Clinical	ENSP00000380870.1:n.1817-4_1817-3insT
ENST00000300527.9:c.1817-4_1817-3insT MANE Select	ENSP00000300527.4:n.1817-4_1817-3insT
ENST00000409416.6:c.1817-4_1817-3insT	ENSP00000387115.1:n.1817-4_1817-3insT
ENST00000300527.8:c.1817-4_1817-3insT	ENSP00000300527.4:n.1817-4_1817-3insT
ENST00000310645.9:c.1817-4_1817-3insT	ENSP00000312529.5:n.1817-4_1817-3insT
ENST00000397763.5:c.1817-4_1817-3insT	ENSP00000380870.1:n.1817-4_1817-3insT
ENST00000409416.5:c.1817-4_1817-3insT	ENSP00000387115.1:n.1817-4_1817-3insT
ENST00000413758.1:c.484_485insT	ENSP00000395751.1:p.Pro162LeufsTer4
NM_001849.3:c.1817-4_1817-3insT , LRG_476t1:c.1817-4_1817-3insT	NP_001840.3:n.1817-4_1817-3insT
NM_058174.2:c.1817-4_1817-3insT	NP_478054.2:n.1817-4_1817-3insT
NM_058175.2:c.1817-4_1817-3insT	NP_478055.2:n.1817-4_1817-3insT
XM_011529451.1:c.1817-4_1817-3insT	XP_011527753.1:n.1817-4_1817-3insT
XM_011529452.1:c.1817-4_1817-3insT	XP_011527754.1:n.1817-4_1817-3insT
XR_937438.1:n.1894-4_1894-3insT
XR_937439.1:n.1894-4_1894-3insT
XR_937438.2:n.1901-4_1901-3insT
XR_937439.2:n.1901-4_1901-3insT
NM_001849.4:c.1817-4_1817-3insT MANE Select	NP_001840.3:n.1817-4_1817-3insT
NM_058174.3:c.1817-4_1817-3insT MANE Plus Clinical	NP_478054.2:n.1817-4_1817-3insT
NM_058175.3:c.1817-4_1817-3insT	NP_478055.2:n.1817-4_1817-3insT