Canonical Allele Identifier: CA2580099014

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 1961007
• ClinVar RCV Id: RCV002715780
• gnomAD v4: 21-46125497-GTCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125500_46125502del , CM000683.2:g.46125500_46125502del	GRCh38
NC_000021.8:g.47545414_47545416del , CM000683.1:g.47545414_47545416del	GRCh37
NC_000021.7:g.46369842_46369844del	NCBI36
NG_008675.1:g.32382_32384del , LRG_476:g.32382_32384del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1852_1854del MANE Plus Clinical	ENSP00000380870.1:p.Phe618del
ENST00000300527.9:c.1852_1854del MANE Select	ENSP00000300527.4:p.Phe618del
ENST00000409416.6:c.1852_1854del	ENSP00000387115.1:p.Phe618del
ENST00000300527.8:c.1852_1854del	ENSP00000300527.4:p.Phe618del
ENST00000310645.9:c.1852_1854del	ENSP00000312529.5:p.Phe618del
ENST00000397763.5:c.1852_1854del	ENSP00000380870.1:p.Phe618del
ENST00000409416.5:c.1852_1854del	ENSP00000387115.1:p.Phe618del
ENST00000413758.1:c.523_525del	ENSP00000395751.1:p.Phe175del
NM_001849.3:c.1852_1854del , LRG_476t1:c.1852_1854del	NP_001840.3:p.Phe618del
NM_058174.2:c.1852_1854del	NP_478054.2:p.Phe618del
NM_058175.2:c.1852_1854del	NP_478055.2:p.Phe618del
XM_011529451.1:c.1852_1854del	XP_011527753.1:p.Phe618del
XM_011529452.1:c.1852_1854del	XP_011527754.1:p.Phe618del
XR_937438.1:n.1929_1931del
XR_937439.1:n.1929_1931del
XR_937438.2:n.1936_1938del
XR_937439.2:n.1936_1938del
NM_001849.4:c.1852_1854del MANE Select	NP_001840.3:p.Phe618del
NM_058174.3:c.1852_1854del MANE Plus Clinical	NP_478054.2:p.Phe618del
NM_058175.3:c.1852_1854del	NP_478055.2:p.Phe618del