Canonical Allele Identifier: CA10073083
Gene: COL6A2 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.46132386G>A
GRCh37 chr21:g.47552300G>A
Revel Score:
ENST00000300527 (MANE Select) 0.635
gnomAD v2:
21:47552300 G / A
gnomAD v3:
21:46132386 G / A
gnomAD v4:
chr21-46132386-G-A
Joint Max Group AF 0.00006763 (SAS)
Exomes Max Group AF 0.00006247 (SAS)
ClinVar RCV:
RCV002627325
RCV003146596
ClinVar Variation:
1933928
dbSNP:
201854898
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46132386G>A , CM000683.2:g.46132386G>A GRCh38
NC_000021.8:g.47552300G>A , CM000683.1:g.47552300G>A GRCh37
NC_000021.7:g.46376728G>A NCBI36
NG_008675.1:g.39268G>A , LRG_476:g.39268G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300527.9:c.2894G>A MANE Select ENSP00000300527.4:p.Arg965His
ENST00000300527.8:c.2894G>A ENSP00000300527.4:p.Arg965His
NM_001849.3:c.2894G>A , LRG_476t1:c.2894G>A NP_001840.3:p.Arg965His
XM_011529451.1:c.2894G>A XP_011527753.1:p.Arg965His
XM_011529452.1:c.2894G>A XP_011527754.1:p.Arg965His
XR_937438.1:n.2971G>A
XR_937438.2:n.2978G>A
NM_001849.4:c.2894G>A MANE Select NP_001840.3:p.Arg965His
Search 100 bp 5'
Search 100 bp 3'