Canonical Allele Identifier: CA10073140

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 284831
• ClinVar RCV Id: RCV000397197 ; RCV000710899 ; RCV001085888 ; RCV003939999
• dbSNP Id: rs113169531
• ExAC: 21:47552423 C / T
• gnomAD v2: 21-47552423-C-T
• gnomAD v3: 21-46132509-C-T
• gnomAD v4: 21-46132509-C-T
• MyVariant Identifiers: chr21:g.47552423C>T (hg19) ; chr21:g.46132509C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46132509C>T , CM000683.2:g.46132509C>T	GRCh38
NC_000021.8:g.47552423C>T , CM000683.1:g.47552423C>T	GRCh37
NC_000021.7:g.46376851C>T	NCBI36
NG_008675.1:g.39391C>T , LRG_476:g.39391C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000300527.9:c.3017C>T MANE Select	ENSP00000300527.4:p.Ala1006Val
ENST00000300527.8:c.3017C>T	ENSP00000300527.4:p.Ala1006Val
NM_001849.3:c.3017C>T , LRG_476t1:c.3017C>T	NP_001840.3:p.Ala1006Val
XM_011529451.1:c.3017C>T	XP_011527753.1:p.Ala1006Val
XM_011529452.1:c.3017C>T	XP_011527754.1:p.Ala1006Val
XR_937438.1:n.3094C>T
XR_937438.2:n.3101C>T
NM_001849.4:c.3017C>T MANE Select	NP_001840.3:p.Ala1006Val