Canonical Allele Identifier: CA749807882

Gene: COL6A2

Linked Data

• dbSNP Id: rs1460839024
• gnomAD v3: 21-46121665-T-TGCCTGAGGAGCAGGACAGGGGGCCG
• gnomAD v4: 21-46121665-T-TGCCTGAGGAGCAGGACAGGGGGCCG
• MyVariant Identifiers: chr21:g.47541579_47541580insGCCTGAGGAGCAGGACAGGGGGCCG (hg19) ; chr21:g.46121665_46121666insGCCTGAGGAGCAGGACAGGGGGCCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46121671_46121695dup , CM000683.2:g.46121671_46121695dup	GRCh38
NC_000021.8:g.47541585_47541609dup , CM000683.1:g.47541585_47541609dup	GRCh37
NC_000021.7:g.46366013_46366037dup	NCBI36
NG_008675.1:g.28553_28577dup , LRG_476:g.28553_28577dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1521+53_1521+77dup MANE Plus Clinical	ENSP00000380870.1:n.1521+53_1521+77dup
ENST00000300527.9:c.1521+53_1521+77dup MANE Select	ENSP00000300527.4:n.1521+53_1521+77dup
ENST00000409416.6:c.1521+53_1521+77dup	ENSP00000387115.1:n.1521+53_1521+77dup
ENST00000300527.8:c.1521+53_1521+77dup	ENSP00000300527.4:n.1521+53_1521+77dup
ENST00000310645.9:c.1521+53_1521+77dup	ENSP00000312529.5:n.1521+53_1521+77dup
ENST00000397763.5:c.1521+53_1521+77dup	ENSP00000380870.1:n.1521+53_1521+77dup
ENST00000409416.5:c.1521+53_1521+77dup	ENSP00000387115.1:n.1521+53_1521+77dup
ENST00000413758.1:c.144+53_144+77dup	ENSP00000395751.1:n.144+53_144+77dup
NM_001849.3:c.1521+53_1521+77dup , LRG_476t1:c.1521+53_1521+77dup	NP_001840.3:n.1521+53_1521+77dup
NM_058174.2:c.1521+53_1521+77dup	NP_478054.2:n.1521+53_1521+77dup
NM_058175.2:c.1521+53_1521+77dup	NP_478055.2:n.1521+53_1521+77dup
XM_011529451.1:c.1521+53_1521+77dup	XP_011527753.1:n.1521+53_1521+77dup
XM_011529452.1:c.1521+53_1521+77dup	XP_011527754.1:n.1521+53_1521+77dup
XR_937438.1:n.1644+53_1644+77dup
XR_937439.1:n.1644+53_1644+77dup
XR_937438.2:n.1651+53_1651+77dup
XR_937439.2:n.1651+53_1651+77dup
NM_001849.4:c.1521+53_1521+77dup MANE Select	NP_001840.3:n.1521+53_1521+77dup
NM_058174.3:c.1521+53_1521+77dup MANE Plus Clinical	NP_478054.2:n.1521+53_1521+77dup
NM_058175.3:c.1521+53_1521+77dup	NP_478055.2:n.1521+53_1521+77dup