Canonical Allele Identifier: CA10071707

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 290484
• ClinVar RCV Id: RCV000284396 ; RCV001087947
• dbSNP Id: rs202094835
• ExAC: 21:47538521 C / A
• gnomAD v2: 21-47538521-C-A
• gnomAD v3: 21-46118607-C-A
• gnomAD v4: 21-46118607-C-A
• MyVariant Identifiers: chr21:g.47538521C>A (hg19) ; chr21:g.46118607C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46118607C>A , CM000683.2:g.46118607C>A	GRCh38
NC_000021.8:g.47538521C>A , CM000683.1:g.47538521C>A	GRCh37
NC_000021.7:g.46362949C>A	NCBI36
NG_008675.1:g.25489C>A , LRG_476:g.25489C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1117-7C>A MANE Plus Clinical	ENSP00000380870.1:n.1117-7C>A
ENST00000300527.9:c.1117-7C>A MANE Select	ENSP00000300527.4:n.1117-7C>A
ENST00000409416.6:c.1117-7C>A	ENSP00000387115.1:n.1117-7C>A
ENST00000300527.8:c.1117-7C>A	ENSP00000300527.4:n.1117-7C>A
ENST00000310645.9:c.1117-7C>A	ENSP00000312529.5:n.1117-7C>A
ENST00000397763.5:c.1117-7C>A	ENSP00000380870.1:n.1117-7C>A
ENST00000409416.5:c.1117-7C>A	ENSP00000387115.1:n.1117-7C>A
NM_001849.3:c.1117-7C>A , LRG_476t1:c.1117-7C>A	NP_001840.3:n.1117-7C>A
NM_058174.2:c.1117-7C>A	NP_478054.2:n.1117-7C>A
NM_058175.2:c.1117-7C>A	NP_478055.2:n.1117-7C>A
XM_011529451.1:c.1117-7C>A	XP_011527753.1:n.1117-7C>A
XM_011529452.1:c.1117-7C>A	XP_011527754.1:n.1117-7C>A
XR_937438.1:n.1240-7C>A
XR_937439.1:n.1240-7C>A
XR_937438.2:n.1247-7C>A
XR_937439.2:n.1247-7C>A
NM_001849.4:c.1117-7C>A MANE Select	NP_001840.3:n.1117-7C>A
NM_058174.3:c.1117-7C>A MANE Plus Clinical	NP_478054.2:n.1117-7C>A
NM_058175.3:c.1117-7C>A	NP_478055.2:n.1117-7C>A