Canonical Allele Identifier: CA10073088

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 285179
• ClinVar RCV Id: RCV000370084 ; RCV001506229
• dbSNP Id: rs138004735
• ExAC: 21:47552313 G / A
• gnomAD v2: 21-47552313-G-A
• gnomAD v3: 21-46132399-G-A
• gnomAD v4: 21-46132399-G-A
• MyVariant Identifiers: chr21:g.47552313G>A (hg19) ; chr21:g.46132399G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46132399G>A , CM000683.2:g.46132399G>A	GRCh38
NC_000021.8:g.47552313G>A , CM000683.1:g.47552313G>A	GRCh37
NC_000021.7:g.46376741G>A	NCBI36
NG_008675.1:g.39281G>A , LRG_476:g.39281G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300527.9:c.2907G>A MANE Select	ENSP00000300527.4:p.Val969=
ENST00000300527.8:c.2907G>A	ENSP00000300527.4:p.Val969=
NM_001849.3:c.2907G>A , LRG_476t1:c.2907G>A	NP_001840.3:p.Val969=
XM_011529451.1:c.2907G>A	XP_011527753.1:p.Val969=
XM_011529452.1:c.2907G>A	XP_011527754.1:p.Val969=
XR_937438.1:n.2984G>A
XR_937438.2:n.2991G>A
NM_001849.4:c.2907G>A MANE Select	NP_001840.3:p.Val969=