Canonical Allele Identifier: CA295302
Gene: COL6A2 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.46132000C>A
GRCh37 chr21:g.47551914C>A
Revel Score:
ENST00000300527 (MANE Select) 0.784
gnomAD v2:
21:47551914 C / A
gnomAD v3:
21:46132000 C / A
gnomAD v4:
chr21-46132000-C-A
Joint Max Group AF 0.00001221 (NFE)
Exomes Max Group AF 0.00001296 (NFE)
ClinVar RCV:
RCV000525095
ClinVar Variation:
162545
dbSNP:
727502835
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46132000C>A , CM000683.2:g.46132000C>A GRCh38
NC_000021.8:g.47551914C>A , CM000683.1:g.47551914C>A GRCh37
NC_000021.7:g.46376342C>A NCBI36
NG_008675.1:g.38882C>A , LRG_476:g.38882C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300527.9:c.2508C>A MANE Select ENSP00000300527.4:p.Phe836Leu
ENST00000300527.8:c.2508C>A ENSP00000300527.4:p.Phe836Leu
NM_001849.3:c.2508C>A , LRG_476t1:c.2508C>A NP_001840.3:p.Phe836Leu
XM_011529451.1:c.2508C>A XP_011527753.1:p.Phe836Leu
XM_011529452.1:c.2508C>A XP_011527754.1:p.Phe836Leu
XR_937438.1:n.2585C>A
XR_937438.2:n.2592C>A
NM_001849.4:c.2508C>A MANE Select NP_001840.3:p.Phe836Leu
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