Canonical Allele Identifier: CA16608565
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 379733
ClinVar RCV Id: RCV000423788 RCV001851051
dbSNP Id: rs1057520717
gnomAD v4: 21-46122159-G-A
MyVariant Identifiers: chr21:g.47542073G>A (hg19) chr21:g.46122159G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46122159G>A , CM000683.2:g.46122159G>A GRCh38
NC_000021.8:g.47542073G>A , CM000683.1:g.47542073G>A GRCh37
NC_000021.7:g.46366501G>A NCBI36
NG_008675.1:g.29041G>A , LRG_476:g.29041G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000397763.6:c.1572+1G>A MANE Plus Clinical ENSP00000380870.1:n.1572+1G>A
ENST00000300527.9:c.1572+1G>A MANE Select ENSP00000300527.4:n.1572+1G>A
ENST00000409416.6:c.1572+1G>A ENSP00000387115.1:n.1572+1G>A
ENST00000300527.8:c.1572+1G>A ENSP00000300527.4:n.1572+1G>A
ENST00000310645.9:c.1572+1G>A ENSP00000312529.5:n.1572+1G>A
ENST00000397763.5:c.1572+1G>A ENSP00000380870.1:n.1572+1G>A
ENST00000409416.5:c.1572+1G>A ENSP00000387115.1:n.1572+1G>A
ENST00000413758.1:c.195+1G>A ENSP00000395751.1:n.195+1G>A
NM_001849.3:c.1572+1G>A , LRG_476t1:c.1572+1G>A NP_001840.3:n.1572+1G>A
NM_058174.2:c.1572+1G>A NP_478054.2:n.1572+1G>A
NM_058175.2:c.1572+1G>A NP_478055.2:n.1572+1G>A
XM_011529451.1:c.1572+1G>A XP_011527753.1:n.1572+1G>A
XM_011529452.1:c.1572+1G>A XP_011527754.1:n.1572+1G>A
XR_937438.1:n.1695+1G>A
XR_937439.1:n.1695+1G>A
XR_937438.2:n.1702+1G>A
XR_937439.2:n.1702+1G>A
NM_001849.4:c.1572+1G>A MANE Select NP_001840.3:n.1572+1G>A
NM_058174.3:c.1572+1G>A MANE Plus Clinical NP_478054.2:n.1572+1G>A
NM_058175.3:c.1572+1G>A NP_478055.2:n.1572+1G>A
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