Canonical Allele Identifier: CA2392504049
Gene: COL6A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46121388_46121391delinsAAGG , CM000683.2:g.46121388_46121391delinsAAGG GRCh38
NC_000021.8:g.47541302_47541305delinsAAGG , CM000683.1:g.47541302_47541305delinsAAGG GRCh37
NC_000021.7:g.46365730_46365733delinsAAGG NCBI36
NG_008675.1:g.28270_28273delinsAAGG , LRG_476:g.28270_28273delinsAAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000397763.6:c.1459-168_1459-165delinsAAGG MANE Plus Clinical ENSP00000380870.1:n.1459-168_1459-165delinsAAGG
ENST00000300527.9:c.1459-168_1459-165delinsAAGG MANE Select ENSP00000300527.4:n.1459-168_1459-165delinsAAGG
ENST00000409416.6:c.1459-168_1459-165delinsAAGG ENSP00000387115.1:n.1459-168_1459-165delinsAAGG
ENST00000300527.8:c.1459-168_1459-165delinsAAGG ENSP00000300527.4:n.1459-168_1459-165delinsAAGG
ENST00000310645.9:c.1459-168_1459-165delinsAAGG ENSP00000312529.5:n.1459-168_1459-165delinsAAGG
ENST00000397763.5:c.1459-168_1459-165delinsAAGG ENSP00000380870.1:n.1459-168_1459-165delinsAAGG
ENST00000409416.5:c.1459-168_1459-165delinsAAGG ENSP00000387115.1:n.1459-168_1459-165delinsAAGG
ENST00000413758.1:c.82-168_82-165delinsAAGG ENSP00000395751.1:n.82-168_82-165delinsAAGG
NM_001849.3:c.1459-168_1459-165delinsAAGG , LRG_476t1:c.1459-168_1459-165delinsAAGG NP_001840.3:n.1459-168_1459-165delinsAAGG
NM_058174.2:c.1459-168_1459-165delinsAAGG NP_478054.2:n.1459-168_1459-165delinsAAGG
NM_058175.2:c.1459-168_1459-165delinsAAGG NP_478055.2:n.1459-168_1459-165delinsAAGG
XM_011529451.1:c.1459-168_1459-165delinsAAGG XP_011527753.1:n.1459-168_1459-165delinsAAGG
XM_011529452.1:c.1459-168_1459-165delinsAAGG XP_011527754.1:n.1459-168_1459-165delinsAAGG
XR_937438.1:n.1582-168_1582-165delinsAAGG
XR_937439.1:n.1582-168_1582-165delinsAAGG
XR_937438.2:n.1589-168_1589-165delinsAAGG
XR_937439.2:n.1589-168_1589-165delinsAAGG
NM_001849.4:c.1459-168_1459-165delinsAAGG MANE Select NP_001840.3:n.1459-168_1459-165delinsAAGG
NM_058174.3:c.1459-168_1459-165delinsAAGG MANE Plus Clinical NP_478054.2:n.1459-168_1459-165delinsAAGG
NM_058175.3:c.1459-168_1459-165delinsAAGG NP_478055.2:n.1459-168_1459-165delinsAAGG