Canonical Allele Identifier: CA2392499709
Gene: COL6A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46114415_46114417delinsACT , CM000683.2:g.46114415_46114417delinsACT GRCh38
NC_000021.8:g.47534329_47534331delinsACT , CM000683.1:g.47534329_47534331delinsACT GRCh37
NC_000021.7:g.46358757_46358759delinsACT NCBI36
NG_008675.1:g.21297_21299delinsACT , LRG_476:g.21297_21299delinsACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000397763.6:c.801+342_801+344delinsACT MANE Plus Clinical ENSP00000380870.1:n.801+342_801+344delinsACT
ENST00000300527.9:c.801+342_801+344delinsACT MANE Select ENSP00000300527.4:n.801+342_801+344delinsACT
ENST00000409416.6:c.801+342_801+344delinsACT ENSP00000387115.1:n.801+342_801+344delinsACT
ENST00000300527.8:c.801+342_801+344delinsACT ENSP00000300527.4:n.801+342_801+344delinsACT
ENST00000310645.9:c.801+342_801+344delinsACT ENSP00000312529.5:n.801+342_801+344delinsACT
ENST00000397763.5:c.801+342_801+344delinsACT ENSP00000380870.1:n.801+342_801+344delinsACT
ENST00000409416.5:c.801+342_801+344delinsACT ENSP00000387115.1:n.801+342_801+344delinsACT
ENST00000485591.1:n.457+342_457+344delinsACT
NM_001849.3:c.801+342_801+344delinsACT , LRG_476t1:c.801+342_801+344delinsACT NP_001840.3:n.801+342_801+344delinsACT
NM_058174.2:c.801+342_801+344delinsACT NP_478054.2:n.801+342_801+344delinsACT
NM_058175.2:c.801+342_801+344delinsACT NP_478055.2:n.801+342_801+344delinsACT
XM_011529451.1:c.801+342_801+344delinsACT XP_011527753.1:n.801+342_801+344delinsACT
XM_011529452.1:c.801+342_801+344delinsACT XP_011527754.1:n.801+342_801+344delinsACT
XR_937438.1:n.924+342_924+344delinsACT
XR_937439.1:n.924+342_924+344delinsACT
XR_937438.2:n.931+342_931+344delinsACT
XR_937439.2:n.931+342_931+344delinsACT
NM_001849.4:c.801+342_801+344delinsACT MANE Select NP_001840.3:n.801+342_801+344delinsACT
NM_058174.3:c.801+342_801+344delinsACT MANE Plus Clinical NP_478054.2:n.801+342_801+344delinsACT
NM_058175.3:c.801+342_801+344delinsACT NP_478055.2:n.801+342_801+344delinsACT