Canonical Allele Identifier: CA10644893

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 340394
• ClinVar RCV Id: RCV000348351 ; RCV000399452
• dbSNP Id: rs568256520
• gnomAD v2: 21-47552532-C-G
• gnomAD v3: 21-46132618-C-G
• gnomAD v4: 21-46132618-C-G
• MyVariant Identifiers: chr21:g.47552532C>G (hg19) ; chr21:g.46132618C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46132618C>G , CM000683.2:g.46132618C>G	GRCh38
NC_000021.8:g.47552532C>G , CM000683.1:g.47552532C>G	GRCh37
NC_000021.7:g.46376960C>G	NCBI36
NG_008675.1:g.39500C>G , LRG_476:g.39500C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300527.9:c.*66C>G MANE Select	ENSP00000300527.4:n.*66C>G
ENST00000300527.8:c.*66C>G	ENSP00000300527.4:n.*66C>G
NM_001849.3:c.*66C>G , LRG_476t1:c.*66C>G	NP_001840.3:n.*66C>G
XM_011529451.1:c.*66C>G	XP_011527753.1:n.*66C>G
XM_011529452.1:c.*66C>G	XP_011527754.1:n.*66C>G
XR_937438.1:n.3203C>G
XR_937438.2:n.3210C>G
NM_001849.4:c.*66C>G MANE Select	NP_001840.3:n.*66C>G