Canonical Allele Identifier: CA638186197

Gene: COL6A2

Linked Data

• dbSNP Id: rs1459505306
• gnomAD v2: 21-47541302-AAGG-A
• gnomAD v3: 21-46121388-AAGG-A
• gnomAD v4: 21-46121388-AAGG-A
• MyVariant Identifiers: chr21:g.47541303_47541305del (hg19) ; chr21:g.46121389_46121391del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46121394_46121396del , CM000683.2:g.46121394_46121396del	GRCh38
NC_000021.8:g.47541308_47541310del , CM000683.1:g.47541308_47541310del	GRCh37
NC_000021.7:g.46365736_46365738del	NCBI36
NG_008675.1:g.28276_28278del , LRG_476:g.28276_28278del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1459-162_1459-160del MANE Plus Clinical	ENSP00000380870.1:n.1459-162_1459-160del
ENST00000300527.9:c.1459-162_1459-160del MANE Select	ENSP00000300527.4:n.1459-162_1459-160del
ENST00000409416.6:c.1459-162_1459-160del	ENSP00000387115.1:n.1459-162_1459-160del
ENST00000300527.8:c.1459-162_1459-160del	ENSP00000300527.4:n.1459-162_1459-160del
ENST00000310645.9:c.1459-162_1459-160del	ENSP00000312529.5:n.1459-162_1459-160del
ENST00000397763.5:c.1459-162_1459-160del	ENSP00000380870.1:n.1459-162_1459-160del
ENST00000409416.5:c.1459-162_1459-160del	ENSP00000387115.1:n.1459-162_1459-160del
ENST00000413758.1:c.82-162_82-160del	ENSP00000395751.1:n.82-162_82-160del
NM_001849.3:c.1459-162_1459-160del , LRG_476t1:c.1459-162_1459-160del	NP_001840.3:n.1459-162_1459-160del
NM_058174.2:c.1459-162_1459-160del	NP_478054.2:n.1459-162_1459-160del
NM_058175.2:c.1459-162_1459-160del	NP_478055.2:n.1459-162_1459-160del
XM_011529451.1:c.1459-162_1459-160del	XP_011527753.1:n.1459-162_1459-160del
XM_011529452.1:c.1459-162_1459-160del	XP_011527754.1:n.1459-162_1459-160del
XR_937438.1:n.1582-162_1582-160del
XR_937439.1:n.1582-162_1582-160del
XR_937438.2:n.1589-162_1589-160del
XR_937439.2:n.1589-162_1589-160del
NM_001849.4:c.1459-162_1459-160del MANE Select	NP_001840.3:n.1459-162_1459-160del
NM_058174.3:c.1459-162_1459-160del MANE Plus Clinical	NP_478054.2:n.1459-162_1459-160del
NM_058175.3:c.1459-162_1459-160del	NP_478055.2:n.1459-162_1459-160del