Canonical Allele Identifier: CA513170594

Gene: COL6A2

Linked Data

• dbSNP Id: rs2078648128
• MyVariant Identifiers: chr21:g.47545403_47545404insGGACGTGGTCTTCGTCATC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125491_46125509dup , CM000683.2:g.46125491_46125509dup	GRCh38
NC_000021.8:g.47545405_47545423dup , CM000683.1:g.47545405_47545423dup	GRCh37
NC_000021.7:g.46369833_46369851dup	NCBI36
NG_008675.1:g.32373_32391dup , LRG_476:g.32373_32391dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1843_1861dup MANE Plus Clinical	ENSP00000380870.1:p.Asp621GlyfsTer36
ENST00000300527.9:c.1843_1861dup MANE Select	ENSP00000300527.4:p.Asp621GlyfsTer36
ENST00000409416.6:c.1843_1861dup	ENSP00000387115.1:p.Asp621GlyfsTer36
ENST00000300527.8:c.1843_1861dup	ENSP00000300527.4:p.Asp621GlyfsTer36
ENST00000310645.9:c.1843_1861dup	ENSP00000312529.5:p.Asp621GlyfsTer36
ENST00000397763.5:c.1843_1861dup	ENSP00000380870.1:p.Asp621GlyfsTer36
ENST00000409416.5:c.1843_1861dup	ENSP00000387115.1:p.Asp621GlyfsTer36
ENST00000413758.1:c.514_532dup	ENSP00000395751.1:p.Asp178GlyfsTer36
NM_001849.3:c.1843_1861dup , LRG_476t1:c.1843_1861dup	NP_001840.3:p.Asp621GlyfsTer36
NM_058174.2:c.1843_1861dup	NP_478054.2:p.Asp621GlyfsTer36
NM_058175.2:c.1843_1861dup	NP_478055.2:p.Asp621GlyfsTer36
XM_011529451.1:c.1843_1861dup	XP_011527753.1:p.Asp621GlyfsTer36
XM_011529452.1:c.1843_1861dup	XP_011527754.1:p.Asp621GlyfsTer36
XR_937438.1:n.1920_1938dup
XR_937439.1:n.1920_1938dup
XR_937438.2:n.1927_1945dup
XR_937439.2:n.1927_1945dup
NM_001849.4:c.1843_1861dup MANE Select	NP_001840.3:p.Asp621GlyfsTer36
NM_058174.3:c.1843_1861dup MANE Plus Clinical	NP_478054.2:p.Asp621GlyfsTer36
NM_058175.3:c.1843_1861dup	NP_478055.2:p.Asp621GlyfsTer36