Canonical Allele Identifier: CA10653092
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 340392
ClinVar RCV Id: RCV000287273 RCV000344661 RCV000509250
dbSNP Id: rs148337125
gnomAD v2: 21-47552522-T-G
gnomAD v3: 21-46132608-T-G
gnomAD v4: 21-46132608-T-G
MyVariant Identifiers: chr21:g.47552522T>G (hg19) chr21:g.46132608T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46132608T>G , CM000683.2:g.46132608T>G GRCh38
NC_000021.8:g.47552522T>G , CM000683.1:g.47552522T>G GRCh37
NC_000021.7:g.46376950T>G NCBI36
NG_008675.1:g.39490T>G , LRG_476:g.39490T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000300527.9:c.*56T>G MANE Select ENSP00000300527.4:n.*56T>G
ENST00000300527.8:c.*56T>G ENSP00000300527.4:n.*56T>G
NM_001849.3:c.*56T>G , LRG_476t1:c.*56T>G NP_001840.3:n.*56T>G
XM_011529451.1:c.*56T>G XP_011527753.1:n.*56T>G
XM_011529452.1:c.*56T>G XP_011527754.1:n.*56T>G
XR_937438.1:n.3193T>G
XR_937438.2:n.3200T>G
NM_001849.4:c.*56T>G MANE Select NP_001840.3:n.*56T>G
Search 100 bp 5'
Search 100 bp 3'