Canonical Allele Identifier: CA1022877352

Gene: COL6A2

Linked Data

• dbSNP Id: rs2078443172

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46114301_46114313dup , CM000683.2:g.46114301_46114313dup	GRCh38
NC_000021.8:g.47534215_47534227dup , CM000683.1:g.47534215_47534227dup	GRCh37
NC_000021.7:g.46358643_46358655dup	NCBI36
NG_008675.1:g.21183_21195dup , LRG_476:g.21183_21195dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.801+228_801+240dup MANE Plus Clinical	ENSP00000380870.1:n.801+228_801+240dup
ENST00000300527.9:c.801+228_801+240dup MANE Select	ENSP00000300527.4:n.801+228_801+240dup
ENST00000409416.6:c.801+228_801+240dup	ENSP00000387115.1:n.801+228_801+240dup
ENST00000300527.8:c.801+228_801+240dup	ENSP00000300527.4:n.801+228_801+240dup
ENST00000310645.9:c.801+228_801+240dup	ENSP00000312529.5:n.801+228_801+240dup
ENST00000397763.5:c.801+228_801+240dup	ENSP00000380870.1:n.801+228_801+240dup
ENST00000409416.5:c.801+228_801+240dup	ENSP00000387115.1:n.801+228_801+240dup
ENST00000485591.1:n.457+228_457+240dup
NM_001849.3:c.801+228_801+240dup , LRG_476t1:c.801+228_801+240dup	NP_001840.3:n.801+228_801+240dup
NM_058174.2:c.801+228_801+240dup	NP_478054.2:n.801+228_801+240dup
NM_058175.2:c.801+228_801+240dup	NP_478055.2:n.801+228_801+240dup
XM_011529451.1:c.801+228_801+240dup	XP_011527753.1:n.801+228_801+240dup
XM_011529452.1:c.801+228_801+240dup	XP_011527754.1:n.801+228_801+240dup
XR_937438.1:n.924+228_924+240dup
XR_937439.1:n.924+228_924+240dup
XR_937438.2:n.931+228_931+240dup
XR_937439.2:n.931+228_931+240dup
NM_001849.4:c.801+228_801+240dup MANE Select	NP_001840.3:n.801+228_801+240dup
NM_058174.3:c.801+228_801+240dup MANE Plus Clinical	NP_478054.2:n.801+228_801+240dup
NM_058175.3:c.801+228_801+240dup	NP_478055.2:n.801+228_801+240dup