Canonical Allele Identifier: CA10650716
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 340395
ClinVar RCV Id: RCV000313405 RCV000370413
dbSNP Id: rs369124688
gnomAD v2: 21-47552554-G-C
gnomAD v3: 21-46132640-G-C
gnomAD v4: 21-46132640-G-C
COSMIC: COSN18743604 COSN18743636 COSN18743673 COSN18743708
MyVariant Identifiers: chr21:g.47552554G>C (hg19) chr21:g.46132640G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46132640G>C , CM000683.2:g.46132640G>C GRCh38
NC_000021.8:g.47552554G>C , CM000683.1:g.47552554G>C GRCh37
NC_000021.7:g.46376982G>C NCBI36
NG_008675.1:g.39522G>C , LRG_476:g.39522G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000300527.9:c.*88G>C MANE Select ENSP00000300527.4:n.*88G>C
ENST00000300527.8:c.*88G>C ENSP00000300527.4:n.*88G>C
NM_001849.3:c.*88G>C , LRG_476t1:c.*88G>C NP_001840.3:n.*88G>C
XM_011529451.1:c.*88G>C XP_011527753.1:n.*88G>C
XM_011529452.1:c.*88G>C XP_011527754.1:n.*88G>C
XR_937438.1:n.3225G>C
XR_937438.2:n.3232G>C
NM_001849.4:c.*88G>C MANE Select NP_001840.3:n.*88G>C
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