Canonical Allele Identifier: CA242955

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 196123
• ClinVar RCV Id: RCV000351153 ; RCV000407370 ; RCV000724824 ; RCV001078865
• dbSNP Id: rs141021828
• ExAC: 21:47552011 G / T
• gnomAD v2: 21-47552011-G-T
• gnomAD v3: 21-46132097-G-T
• gnomAD v4: 21-46132097-G-T
• MyVariant Identifiers: chr21:g.47552011G>T (hg19) ; chr21:g.46132097G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46132097G>T , CM000683.2:g.46132097G>T	GRCh38
NC_000021.8:g.47552011G>T , CM000683.1:g.47552011G>T	GRCh37
NC_000021.7:g.46376439G>T	NCBI36
NG_008675.1:g.38979G>T , LRG_476:g.38979G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300527.9:c.2605G>T MANE Select	ENSP00000300527.4:p.Asp869Tyr
ENST00000300527.8:c.2605G>T	ENSP00000300527.4:p.Asp869Tyr
NM_001849.3:c.2605G>T , LRG_476t1:c.2605G>T	NP_001840.3:p.Asp869Tyr
XM_011529451.1:c.2605G>T	XP_011527753.1:p.Asp869Tyr
XM_011529452.1:c.2605G>T	XP_011527754.1:p.Asp869Tyr
XR_937438.1:n.2682G>T
XR_937438.2:n.2689G>T
NM_001849.4:c.2605G>T MANE Select	NP_001840.3:p.Asp869Tyr