Canonical Allele Identifier: CA1139655418

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 17162
• ClinVar RCV Id: RCV003764598

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46114704_46116035del , CM000683.2:g.46114704_46116035del	GRCh38
NC_000021.8:g.47534618_47535949del , CM000683.1:g.47534618_47535949del	GRCh37
NC_000021.7:g.46359046_46360377del	NCBI36
NG_008675.1:g.21586_22917del , LRG_476:g.21586_22917del

Transcript Alleles

HGVS	Amino-acid change
ENST00000397763.6:c.801+631_882del
ENST00000300527.9:c.801+631_882del
ENST00000409416.6:c.801+631_882del
ENST00000300527.8:c.801+631_882del
ENST00000310645.9:c.801+631_882del
ENST00000397763.5:c.801+631_882del
ENST00000409416.5:c.801+631_882del
ENST00000485591.1:n.457+631_538del
NM_001849.3:c.801+631_882del , LRG_476t1:c.801+631_882del
NM_058174.2:c.801+631_882del
NM_058175.2:c.801+631_882del
XM_011529451.1:c.801+631_882del
XM_011529452.1:c.801+631_882del
XR_937438.1:n.924+631_1005del
XR_937439.1:n.924+631_1005del
XR_937438.2:n.931+631_1012del
XR_937439.2:n.931+631_1012del
NM_001849.4:c.801+631_882del
NM_058174.3:c.801+631_882del
NM_058175.3:c.801+631_882del