Canonical Allele Identifier: CA10071340
Gene: COL6A2 HGNC NCBI
COSMIC:
COSM4409826 (not active)
COSM4409827 (not active)
COSM4409828 (not active)
MyVariant.info:
GRCh38 chr21:g.46112431G>A
GRCh37 chr21:g.47532345G>A
Revel Score:
ENST00000300527 (MANE Select) 0.721
ENST00000357838 0.721
ENST00000310645 0.721
ENST00000409416 0.721
ENST00000397763 (MANE Plus Clinical) 0.721
gnomAD v2:
21:47532345 G / A
gnomAD v3:
21:46112431 G / A
gnomAD v4:
chr21-46112431-G-A
Joint Max Group AF 0.00242651 (AFR)
Genomes Max Group AF 0.00222338 (AFR)
Exomes Max Group AF 0.00240504 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46112431G>A , CM000683.2:g.46112431G>A GRCh38
NC_000021.8:g.47532345G>A , CM000683.1:g.47532345G>A GRCh37
NC_000021.7:g.46356773G>A NCBI36
NG_008675.1:g.19313G>A , LRG_476:g.19313G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000397763.6:c.568G>A MANE Plus Clinical ENSP00000380870.1:p.Val190Met
ENST00000300527.9:c.568G>A MANE Select ENSP00000300527.4:p.Val190Met
ENST00000409416.6:c.568G>A ENSP00000387115.1:p.Val190Met
ENST00000300527.8:c.568G>A ENSP00000300527.4:p.Val190Met
ENST00000310645.9:c.568G>A ENSP00000312529.5:p.Val190Met
ENST00000397763.5:c.568G>A ENSP00000380870.1:p.Val190Met
ENST00000409416.5:c.568G>A ENSP00000387115.1:p.Val190Met
ENST00000460886.1:n.14G>A
NM_001849.3:c.568G>A , LRG_476t1:c.568G>A NP_001840.3:p.Val190Met
NM_058174.2:c.568G>A NP_478054.2:p.Val190Met
NM_058175.2:c.568G>A NP_478055.2:p.Val190Met
XM_011529451.1:c.568G>A XP_011527753.1:p.Val190Met
XM_011529452.1:c.568G>A XP_011527754.1:p.Val190Met
XR_937438.1:n.691G>A
XR_937439.1:n.691G>A
XR_937438.2:n.698G>A
XR_937439.2:n.698G>A
NM_001849.4:c.568G>A MANE Select NP_001840.3:p.Val190Met
NM_058174.3:c.568G>A MANE Plus Clinical NP_478054.2:p.Val190Met
NM_058175.3:c.568G>A NP_478055.2:p.Val190Met
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