Canonical Allele Identifier: CA1022870096

Gene: COL6A2

Linked Data

• dbSNP Id: rs2078653462
• gnomAD v3: 21-46125735-GC-G
• gnomAD v4: 21-46125735-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125739del , CM000683.2:g.46125739del	GRCh38
NC_000021.8:g.47545653del , CM000683.1:g.47545653del	GRCh37
NC_000021.7:g.46370081del	NCBI36
NG_008675.1:g.32621del , LRG_476:g.32621del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1970-46del MANE Plus Clinical	ENSP00000380870.1:n.1970-46del
ENST00000300527.9:c.1970-46del MANE Select	ENSP00000300527.4:n.1970-46del
ENST00000409416.6:c.1970-46del	ENSP00000387115.1:n.1970-46del
ENST00000300527.8:c.1970-46del	ENSP00000300527.4:n.1970-46del
ENST00000310645.9:c.1970-46del	ENSP00000312529.5:n.1970-46del
ENST00000397763.5:c.1970-46del	ENSP00000380870.1:n.1970-46del
ENST00000409416.5:c.1970-46del	ENSP00000387115.1:n.1970-46del
ENST00000413758.1:c.641-46del	ENSP00000395751.1:n.641-46del
NM_001849.3:c.1970-46del , LRG_476t1:c.1970-46del	NP_001840.3:n.1970-46del
NM_058174.2:c.1970-46del	NP_478054.2:n.1970-46del
NM_058175.2:c.1970-46del	NP_478055.2:n.1970-46del
XM_011529451.1:c.1970-46del	XP_011527753.1:n.1970-46del
XM_011529452.1:c.1970-46del	XP_011527754.1:n.1970-46del
XR_937438.1:n.2047-46del
XR_937439.1:n.2047-46del
XR_937438.2:n.2054-46del
XR_937439.2:n.2054-46del
NM_001849.4:c.1970-46del MANE Select	NP_001840.3:n.1970-46del
NM_058174.3:c.1970-46del MANE Plus Clinical	NP_478054.2:n.1970-46del
NM_058175.3:c.1970-46del	NP_478055.2:n.1970-46del