Canonical Allele Identifier: CA10072301
Gene: COL6A2 HGNC NCBI

Linked Data

dbSNP Id: rs761642362

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46125469_46125470del , CM000683.2:g.46125469_46125470del GRCh38
NC_000021.8:g.47545383_47545384del , CM000683.1:g.47545383_47545384del GRCh37
NC_000021.7:g.46369811_46369812del NCBI36
NG_008675.1:g.32351_32352del , LRG_476:g.32351_32352del

Transcript Alleles

HGVS Amino-acid Change
ENST00000397763.6:c.1821_1822del MANE Plus Clinical ENSP00000380870.1:p.Cys607Ter
ENST00000300527.9:c.1821_1822del MANE Select ENSP00000300527.4:p.Cys607Ter
ENST00000409416.6:c.1821_1822del ENSP00000387115.1:p.Cys607Ter
ENST00000300527.8:c.1821_1822del ENSP00000300527.4:p.Cys607Ter
ENST00000310645.9:c.1821_1822del ENSP00000312529.5:p.Cys607Ter
ENST00000397763.5:c.1821_1822del ENSP00000380870.1:p.Cys607Ter
ENST00000409416.5:c.1821_1822del ENSP00000387115.1:p.Cys607Ter
ENST00000413758.1:c.492_493del ENSP00000395751.1:p.Cys164Ter
NM_001849.3:c.1821_1822del , LRG_476t1:c.1821_1822del NP_001840.3:p.Cys607Ter
NM_058174.2:c.1821_1822del NP_478054.2:p.Cys607Ter
NM_058175.2:c.1821_1822del NP_478055.2:p.Cys607Ter
XM_011529451.1:c.1821_1822del XP_011527753.1:p.Cys607Ter
XM_011529452.1:c.1821_1822del XP_011527754.1:p.Cys607Ter
XR_937438.1:n.1898_1899del
XR_937439.1:n.1898_1899del
XR_937438.2:n.1905_1906del
XR_937439.2:n.1905_1906del
NM_001849.4:c.1821_1822del MANE Select NP_001840.3:p.Cys607Ter
NM_058174.3:c.1821_1822del MANE Plus Clinical NP_478054.2:p.Cys607Ter
NM_058175.3:c.1821_1822del NP_478055.2:p.Cys607Ter