Canonical Allele Identifier: CA10073165

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 284976
• ClinVar RCV Id: RCV000261412 ; RCV000318994 ; RCV000326800 ; RCV001007855
• dbSNP Id: rs377195134
• ExAC: 21:47552471 G / A
• gnomAD v2: 21-47552471-G-A
• gnomAD v3: 21-46132557-G-A
• gnomAD v4: 21-46132557-G-A
• MyVariant Identifiers: chr21:g.47552471G>A (hg19) ; chr21:g.46132557G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46132557G>A , CM000683.2:g.46132557G>A	GRCh38
NC_000021.8:g.47552471G>A , CM000683.1:g.47552471G>A	GRCh37
NC_000021.7:g.46376899G>A	NCBI36
NG_008675.1:g.39439G>A , LRG_476:g.39439G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300527.9:c.*5G>A MANE Select	ENSP00000300527.4:n.*5G>A
ENST00000300527.8:c.*5G>A	ENSP00000300527.4:n.*5G>A
NM_001849.3:c.*5G>A , LRG_476t1:c.*5G>A	NP_001840.3:n.*5G>A
XM_011529451.1:c.*5G>A	XP_011527753.1:n.*5G>A
XM_011529452.1:c.*5G>A	XP_011527754.1:n.*5G>A
XR_937438.1:n.3142G>A
XR_937438.2:n.3149G>A
NM_001849.4:c.*5G>A MANE Select	NP_001840.3:n.*5G>A