Canonical Allele Identifier: CA513170732

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 502091
• ClinVar RCV Id: RCV000592712 ; RCV002062094
• dbSNP Id: rs1474756520
• gnomAD v2: 21-47552001-G-A
• gnomAD v4: 21-46132087-G-A
• MyVariant Identifiers: chr21:g.47552001G>A (hg19) ; chr21:g.46132087G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46132087G>A , CM000683.2:g.46132087G>A	GRCh38
NC_000021.8:g.47552001G>A , CM000683.1:g.47552001G>A	GRCh37
NC_000021.7:g.46376429G>A	NCBI36
NG_008675.1:g.38969G>A , LRG_476:g.38969G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300527.9:c.2595G>A MANE Select	ENSP00000300527.4:p.Leu865=
ENST00000300527.8:c.2595G>A	ENSP00000300527.4:p.Leu865=
NM_001849.3:c.2595G>A , LRG_476t1:c.2595G>A	NP_001840.3:p.Leu865=
XM_011529451.1:c.2595G>A	XP_011527753.1:p.Leu865=
XM_011529452.1:c.2595G>A	XP_011527754.1:p.Leu865=
XR_937438.1:n.2672G>A
XR_937438.2:n.2679G>A
NM_001849.4:c.2595G>A MANE Select	NP_001840.3:p.Leu865=