Canonical Allele Identifier: CA10073095
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 340385
ClinVar RCV Id: RCV000328906 RCV000385853 RCV000694258 RCV001569334
dbSNP Id: rs145959270
ExAC: 21:47552323 G / A
gnomAD v2: 21-47552323-G-A
gnomAD v3: 21-46132409-G-A
gnomAD v4: 21-46132409-G-A
COSMIC: COSM3693834
MyVariant Identifiers: chr21:g.47552323G>A (hg19) chr21:g.46132409G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46132409G>A , CM000683.2:g.46132409G>A GRCh38
NC_000021.8:g.47552323G>A , CM000683.1:g.47552323G>A GRCh37
NC_000021.7:g.46376751G>A NCBI36
NG_008675.1:g.39291G>A , LRG_476:g.39291G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300527.9:c.2917G>A MANE Select ENSP00000300527.4:p.Val973Met
ENST00000300527.8:c.2917G>A ENSP00000300527.4:p.Val973Met
NM_001849.3:c.2917G>A , LRG_476t1:c.2917G>A NP_001840.3:p.Val973Met
XM_011529451.1:c.2917G>A XP_011527753.1:p.Val973Met
XM_011529452.1:c.2917G>A XP_011527754.1:p.Val973Met
XR_937438.1:n.2994G>A
XR_937438.2:n.3001G>A
NM_001849.4:c.2917G>A MANE Select NP_001840.3:p.Val973Met
Search 100 bp 5'
Search 100 bp 3'