Canonical Allele Identifier: CA260566
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 36916
ClinVar RCV Id: RCV003764644
dbSNP Id: rs398122821

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46125504_46125509del , CM000683.2:g.46125504_46125509del GRCh38
NC_000021.8:g.47545418_47545423del , CM000683.1:g.47545418_47545423del GRCh37
NC_000021.7:g.46369846_46369851del NCBI36
NG_008675.1:g.32386_32391del , LRG_476:g.32386_32391del

Transcript Alleles

HGVS Amino-acid Change
ENST00000397763.6:c.1856_1861del MANE Plus Clinical ENSP00000380870.1:p.Val619_Ile620del
ENST00000300527.9:c.1856_1861del MANE Select ENSP00000300527.4:p.Val619_Ile620del
ENST00000409416.6:c.1856_1861del ENSP00000387115.1:p.Val619_Ile620del
ENST00000300527.8:c.1856_1861del ENSP00000300527.4:p.Val619_Ile620del
ENST00000310645.9:c.1856_1861del ENSP00000312529.5:p.Val619_Ile620del
ENST00000397763.5:c.1856_1861del ENSP00000380870.1:p.Val619_Ile620del
ENST00000409416.5:c.1856_1861del ENSP00000387115.1:p.Val619_Ile620del
ENST00000413758.1:c.527_532del ENSP00000395751.1:p.Val176_Ile177del
NM_001849.3:c.1856_1861del , LRG_476t1:c.1856_1861del NP_001840.3:p.Val619_Ile620del
NM_058174.2:c.1856_1861del NP_478054.2:p.Val619_Ile620del
NM_058175.2:c.1856_1861del NP_478055.2:p.Val619_Ile620del
XM_011529451.1:c.1856_1861del XP_011527753.1:p.Val619_Ile620del
XM_011529452.1:c.1856_1861del XP_011527754.1:p.Val619_Ile620del
XR_937438.1:n.1933_1938del
XR_937439.1:n.1933_1938del
XR_937438.2:n.1940_1945del
XR_937439.2:n.1940_1945del
NM_001849.4:c.1856_1861del MANE Select NP_001840.3:p.Val619_Ile620del
NM_058174.3:c.1856_1861del MANE Plus Clinical NP_478054.2:p.Val619_Ile620del
NM_058175.3:c.1856_1861del NP_478055.2:p.Val619_Ile620del