Canonical Allele Identifier: CA10072983

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 288305
• ClinVar RCV Id: RCV000268727 ; RCV000326181 ; RCV000327831 ; RCV000822191
• dbSNP Id: rs373611722
• ExAC: 21:47552113 G / A
• gnomAD v2: 21-47552113-G-A
• gnomAD v3: 21-46132199-G-A
• gnomAD v4: 21-46132199-G-A
• MyVariant Identifiers: chr21:g.47552113G>A (hg19) ; chr21:g.47552113_47552130delinsAAGGCGCTGGAGACCACA (hg19) ; chr21:g.46132199G>A (hg38) ; chr21:g.46132199_46132216delinsAAGGCGCTGGAGACCACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46132199G>A , CM000683.2:g.46132199G>A	GRCh38
NC_000021.8:g.47552113G>A , CM000683.1:g.47552113G>A	GRCh37
NC_000021.7:g.46376541G>A	NCBI36
NG_008675.1:g.39081G>A , LRG_476:g.39081G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300527.9:c.2707G>A MANE Select	ENSP00000300527.4:p.Glu903Lys
ENST00000300527.8:c.2707G>A	ENSP00000300527.4:p.Glu903Lys
NM_001849.3:c.2707G>A , LRG_476t1:c.2707G>A	NP_001840.3:p.Glu903Lys
XM_011529451.1:c.2707G>A	XP_011527753.1:p.Glu903Lys
XM_011529452.1:c.2707G>A	XP_011527754.1:p.Glu903Lys
XR_937438.1:n.2784G>A
XR_937438.2:n.2791G>A
NM_001849.4:c.2707G>A MANE Select	NP_001840.3:p.Glu903Lys