Canonical Allele Identifier: CA10073130

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 289754
• ClinVar RCV Id: RCV000311292 ; RCV002518099 ; RCV000800095
• dbSNP Id: rs142296092
• ExAC: 21:47552401 G / A
• gnomAD v2: 21-47552401-G-A
• gnomAD v3: 21-46132487-G-A
• gnomAD v4: 21-46132487-G-A
• MyVariant Identifiers: chr21:g.47552401G>A (hg19) ; chr21:g.47552401_47552404delinsAAGA (hg19) ; chr21:g.46132487G>A (hg38) ; chr21:g.46132487_46132490delinsAAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46132487G>A , CM000683.2:g.46132487G>A	GRCh38
NC_000021.8:g.47552401G>A , CM000683.1:g.47552401G>A	GRCh37
NC_000021.7:g.46376829G>A	NCBI36
NG_008675.1:g.39369G>A , LRG_476:g.39369G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300527.9:c.2995G>A MANE Select	ENSP00000300527.4:p.Glu999Lys
ENST00000300527.8:c.2995G>A	ENSP00000300527.4:p.Glu999Lys
NM_001849.3:c.2995G>A , LRG_476t1:c.2995G>A	NP_001840.3:p.Glu999Lys
XM_011529451.1:c.2995G>A	XP_011527753.1:p.Glu999Lys
XM_011529452.1:c.2995G>A	XP_011527754.1:p.Glu999Lys
XR_937438.1:n.3072G>A
XR_937438.2:n.3079G>A
NM_001849.4:c.2995G>A MANE Select	NP_001840.3:p.Glu999Lys