Canonical Allele Identifier: CA749814449

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 2071789
• ClinVar RCV Id: RCV002962410
• dbSNP Id: rs1193393607
• gnomAD v3: 21-46125769-C-CGCGT
• gnomAD v4: 21-46125769-C-CGCGT
• MyVariant Identifiers: chr21:g.47545683_47545684insGCGT (hg19) ; chr21:g.46125769_46125770insGCGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125773_46125776dup , CM000683.2:g.46125773_46125776dup	GRCh38
NC_000021.8:g.47545687_47545690dup , CM000683.1:g.47545687_47545690dup	GRCh37
NC_000021.7:g.46370115_46370118dup	NCBI36
NG_008675.1:g.32655_32658dup , LRG_476:g.32655_32658dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1970-12_1970-9dup MANE Plus Clinical	ENSP00000380870.1:n.1970-12_1970-9dup
ENST00000300527.9:c.1970-12_1970-9dup MANE Select	ENSP00000300527.4:n.1970-12_1970-9dup
ENST00000409416.6:c.1970-12_1970-9dup	ENSP00000387115.1:n.1970-12_1970-9dup
ENST00000300527.8:c.1970-12_1970-9dup	ENSP00000300527.4:n.1970-12_1970-9dup
ENST00000310645.9:c.1970-12_1970-9dup	ENSP00000312529.5:n.1970-12_1970-9dup
ENST00000397763.5:c.1970-12_1970-9dup	ENSP00000380870.1:n.1970-12_1970-9dup
ENST00000409416.5:c.1970-12_1970-9dup	ENSP00000387115.1:n.1970-12_1970-9dup
ENST00000413758.1:c.641-12_641-9dup	ENSP00000395751.1:n.641-12_641-9dup
NM_001849.3:c.1970-12_1970-9dup , LRG_476t1:c.1970-12_1970-9dup	NP_001840.3:n.1970-12_1970-9dup
NM_058174.2:c.1970-12_1970-9dup	NP_478054.2:n.1970-12_1970-9dup
NM_058175.2:c.1970-12_1970-9dup	NP_478055.2:n.1970-12_1970-9dup
XM_011529451.1:c.1970-12_1970-9dup	XP_011527753.1:n.1970-12_1970-9dup
XM_011529452.1:c.1970-12_1970-9dup	XP_011527754.1:n.1970-12_1970-9dup
XR_937438.1:n.2047-12_2047-9dup
XR_937439.1:n.2047-12_2047-9dup
XR_937438.2:n.2054-12_2054-9dup
XR_937439.2:n.2054-12_2054-9dup
NM_001849.4:c.1970-12_1970-9dup MANE Select	NP_001840.3:n.1970-12_1970-9dup
NM_058174.3:c.1970-12_1970-9dup MANE Plus Clinical	NP_478054.2:n.1970-12_1970-9dup
NM_058175.3:c.1970-12_1970-9dup	NP_478055.2:n.1970-12_1970-9dup