Canonical Allele Identifier: CA638186193

Gene: COL6A2

Linked Data

• dbSNP Id: rs1568934299
• gnomAD v2: 21-47541285-T-TGG
• gnomAD v3: 21-46121371-T-TGG
• gnomAD v4: 21-46121371-T-TGG
• MyVariant Identifiers: chr21:g.47541285_47541286insGG (hg19) ; chr21:g.46121371_46121372insGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46121372_46121373dup , CM000683.2:g.46121372_46121373dup	GRCh38
NC_000021.8:g.47541286_47541287dup , CM000683.1:g.47541286_47541287dup	GRCh37
NC_000021.7:g.46365714_46365715dup	NCBI36
NG_008675.1:g.28254_28255dup , LRG_476:g.28254_28255dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1459-184_1459-183dup MANE Plus Clinical	ENSP00000380870.1:n.1459-184_1459-183dup
ENST00000300527.9:c.1459-184_1459-183dup MANE Select	ENSP00000300527.4:n.1459-184_1459-183dup
ENST00000409416.6:c.1459-184_1459-183dup	ENSP00000387115.1:n.1459-184_1459-183dup
ENST00000300527.8:c.1459-184_1459-183dup	ENSP00000300527.4:n.1459-184_1459-183dup
ENST00000310645.9:c.1459-184_1459-183dup	ENSP00000312529.5:n.1459-184_1459-183dup
ENST00000397763.5:c.1459-184_1459-183dup	ENSP00000380870.1:n.1459-184_1459-183dup
ENST00000409416.5:c.1459-184_1459-183dup	ENSP00000387115.1:n.1459-184_1459-183dup
ENST00000413758.1:c.82-184_82-183dup	ENSP00000395751.1:n.82-184_82-183dup
NM_001849.3:c.1459-184_1459-183dup , LRG_476t1:c.1459-184_1459-183dup	NP_001840.3:n.1459-184_1459-183dup
NM_058174.2:c.1459-184_1459-183dup	NP_478054.2:n.1459-184_1459-183dup
NM_058175.2:c.1459-184_1459-183dup	NP_478055.2:n.1459-184_1459-183dup
XM_011529451.1:c.1459-184_1459-183dup	XP_011527753.1:n.1459-184_1459-183dup
XM_011529452.1:c.1459-184_1459-183dup	XP_011527754.1:n.1459-184_1459-183dup
XR_937438.1:n.1582-184_1582-183dup
XR_937439.1:n.1582-184_1582-183dup
XR_937438.2:n.1589-184_1589-183dup
XR_937439.2:n.1589-184_1589-183dup
NM_001849.4:c.1459-184_1459-183dup MANE Select	NP_001840.3:n.1459-184_1459-183dup
NM_058174.3:c.1459-184_1459-183dup MANE Plus Clinical	NP_478054.2:n.1459-184_1459-183dup
NM_058175.3:c.1459-184_1459-183dup	NP_478055.2:n.1459-184_1459-183dup