Canonical Allele Identifier: CA658799472

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 497226
• ClinVar RCV Id: RCV000598319
• dbSNP Id: rs1555872200
• MyVariant Identifiers: chr21:g.47533982_47533993del (hg19) ; chr21:g.46114068_46114079del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46114068_46114079del , CM000683.2:g.46114068_46114079del	GRCh38
NC_000021.8:g.47533982_47533993del , CM000683.1:g.47533982_47533993del	GRCh37
NC_000021.7:g.46358410_46358421del	NCBI36
NG_008675.1:g.20950_20961del , LRG_476:g.20950_20961del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.796_801+6del
ENST00000300527.9:c.796_801+6del
ENST00000409416.6:c.796_801+6del
ENST00000300527.8:c.796_801+6del
ENST00000310645.9:c.796_801+6del
ENST00000397763.5:c.796_801+6del
ENST00000409416.5:c.796_801+6del
ENST00000485591.1:n.452_457+6del
NM_001849.3:c.796_801+6del , LRG_476t1:c.796_801+6del
NM_058174.2:c.796_801+6del
NM_058175.2:c.796_801+6del
XM_011529451.1:c.796_801+6del
XM_011529452.1:c.796_801+6del
XR_937438.1:n.919_924+6del
XR_937439.1:n.919_924+6del
XR_937438.2:n.926_931+6del
XR_937439.2:n.926_931+6del
NM_001849.4:c.796_801+6del
NM_058174.3:c.796_801+6del
NM_058175.3:c.796_801+6del