Canonical Allele Identifier: CA2654974008

Gene: COL6A2

Linked Data

• gnomAD v4: 21-46125881-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125883dup , CM000683.2:g.46125883dup	GRCh38
NC_000021.8:g.47545797dup , CM000683.1:g.47545797dup	GRCh37
NC_000021.7:g.46370225dup	NCBI36
NG_008675.1:g.32765dup , LRG_476:g.32765dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.2068dup MANE Plus Clinical	ENSP00000380870.1:p.Ala690GlyfsTer?
ENST00000300527.9:c.2068dup MANE Select	ENSP00000300527.4:p.Ala690GlyfsTer?
ENST00000409416.6:c.2068dup	ENSP00000387115.1:p.Ala690GlyfsTer?
ENST00000300527.8:c.2068dup	ENSP00000300527.4:p.Ala690GlyfsTer?
ENST00000310645.9:c.2068dup	ENSP00000312529.5:p.Ala690GlyfsTer?
ENST00000397763.5:c.2068dup	ENSP00000380870.1:p.Ala690GlyfsTer?
ENST00000409416.5:c.2068dup	ENSP00000387115.1:p.Ala690GlyfsTer?
ENST00000413758.1:c.739dup	ENSP00000395751.1:p.Ala247GlyfsTer?
NM_001849.3:c.2068dup , LRG_476t1:c.2068dup	NP_001840.3:p.Ala690GlyfsTer?
NM_058174.2:c.2068dup	NP_478054.2:p.Ala690GlyfsTer?
NM_058175.2:c.2068dup	NP_478055.2:p.Ala690GlyfsTer?
XM_011529451.1:c.2068dup	XP_011527753.1:p.Ala690GlyfsTer?
XM_011529452.1:c.2068dup	XP_011527754.1:p.Ala690GlyfsTer?
XR_937438.1:n.2145dup
XR_937439.1:n.2145dup
XR_937438.2:n.2152dup
XR_937439.2:n.2152dup
NM_001849.4:c.2068dup MANE Select	NP_001840.3:p.Ala690GlyfsTer?
NM_058174.3:c.2068dup MANE Plus Clinical	NP_478054.2:p.Ala690GlyfsTer?
NM_058175.3:c.2068dup	NP_478055.2:p.Ala690GlyfsTer?