Canonical Allele Identifier: CA10072282

Gene: COL6A2

Linked Data

• dbSNP Id: rs748509929
• ExAC: 21:47545350 A / AC
• gnomAD v2: 21-47545350-A-AC
• gnomAD v3: 21-46125436-A-AC
• gnomAD v4: 21-46125436-A-AC
• MyVariant Identifiers: chr21:g.47545351_47545352insC (hg19) ; chr21:g.47545350_47545351insC (hg19) ; chr21:g.46125436_46125437insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125442dup , CM000683.2:g.46125442dup	GRCh38
NC_000021.8:g.47545356dup , CM000683.1:g.47545356dup	GRCh37
NC_000021.7:g.46369784dup	NCBI36
NG_008675.1:g.32324dup , LRG_476:g.32324dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1817-23dup MANE Plus Clinical	ENSP00000380870.1:n.1817-23dup
ENST00000300527.9:c.1817-23dup MANE Select	ENSP00000300527.4:n.1817-23dup
ENST00000409416.6:c.1817-23dup	ENSP00000387115.1:n.1817-23dup
ENST00000300527.8:c.1817-23dup	ENSP00000300527.4:n.1817-23dup
ENST00000310645.9:c.1817-23dup	ENSP00000312529.5:n.1817-23dup
ENST00000397763.5:c.1817-23dup	ENSP00000380870.1:n.1817-23dup
ENST00000409416.5:c.1817-23dup	ENSP00000387115.1:n.1817-23dup
ENST00000413758.1:c.465dup	ENSP00000395751.1:p.Asp156ArgfsTer2
NM_001849.3:c.1817-23dup , LRG_476t1:c.1817-23dup	NP_001840.3:n.1817-23dup
NM_058174.2:c.1817-23dup	NP_478054.2:n.1817-23dup
NM_058175.2:c.1817-23dup	NP_478055.2:n.1817-23dup
XM_011529451.1:c.1817-23dup	XP_011527753.1:n.1817-23dup
XM_011529452.1:c.1817-23dup	XP_011527754.1:n.1817-23dup
XR_937438.1:n.1894-23dup
XR_937439.1:n.1894-23dup
XR_937438.2:n.1901-23dup
XR_937439.2:n.1901-23dup
NM_001849.4:c.1817-23dup MANE Select	NP_001840.3:n.1817-23dup
NM_058174.3:c.1817-23dup MANE Plus Clinical	NP_478054.2:n.1817-23dup
NM_058175.3:c.1817-23dup	NP_478055.2:n.1817-23dup