Canonical Allele Identifier: CA2654974000

Gene: COL6A2

Linked Data

• gnomAD v4: 21-46125767-C-CACGCGTGCGGCTTGCAGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125775_46125793dup , CM000683.2:g.46125775_46125793dup	GRCh38
NC_000021.8:g.47545689_47545707dup , CM000683.1:g.47545689_47545707dup	GRCh37
NC_000021.7:g.46370117_46370135dup	NCBI36
NG_008675.1:g.32657_32675dup , LRG_476:g.32657_32675dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1970-10_1978dup
ENST00000300527.9:c.1970-10_1978dup
ENST00000409416.6:c.1970-10_1978dup
ENST00000300527.8:c.1970-10_1978dup
ENST00000310645.9:c.1970-10_1978dup
ENST00000397763.5:c.1970-10_1978dup
ENST00000409416.5:c.1970-10_1978dup
ENST00000413758.1:c.641-10_649dup
NM_001849.3:c.1970-10_1978dup , LRG_476t1:c.1970-10_1978dup
NM_058174.2:c.1970-10_1978dup
NM_058175.2:c.1970-10_1978dup
XM_011529451.1:c.1970-10_1978dup
XM_011529452.1:c.1970-10_1978dup
XR_937438.1:n.2047-10_2055dup
XR_937439.1:n.2047-10_2055dup
XR_937438.2:n.2054-10_2062dup
XR_937439.2:n.2054-10_2062dup
NM_001849.4:c.1970-10_1978dup
NM_058174.3:c.1970-10_1978dup
NM_058175.3:c.1970-10_1978dup