Canonical Allele Identifier: CA2392504826

Gene: COL6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46122588_46122602delinsTTGCTGGGAACACAA , CM000683.2:g.46122588_46122602delinsTTGCTGGGAACACAA	GRCh38
NC_000021.8:g.47542502_47542516delinsTTGCTGGGAACACAA , CM000683.1:g.47542502_47542516delinsTTGCTGGGAACACAA	GRCh37
NC_000021.7:g.46366930_46366944delinsTTGCTGGGAACACAA	NCBI36
NG_008675.1:g.29470_29484delinsTTGCTGGGAACACAA , LRG_476:g.29470_29484delinsTTGCTGGGAACACAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1608+57_1608+71delinsTTGCTGGGAACACAA MANE Plus Clinical	ENSP00000380870.1:n.1608+57_1608+71delinsTTGCTGGGAACACAA
ENST00000300527.9:c.1608+57_1608+71delinsTTGCTGGGAACACAA MANE Select	ENSP00000300527.4:n.1608+57_1608+71delinsTTGCTGGGAACACAA
ENST00000409416.6:c.1608+57_1608+71delinsTTGCTGGGAACACAA	ENSP00000387115.1:n.1608+57_1608+71delinsTTGCTGGGAACACAA
ENST00000300527.8:c.1608+57_1608+71delinsTTGCTGGGAACACAA	ENSP00000300527.4:n.1608+57_1608+71delinsTTGCTGGGAACACAA
ENST00000310645.9:c.1608+57_1608+71delinsTTGCTGGGAACACAA	ENSP00000312529.5:n.1608+57_1608+71delinsTTGCTGGGAACACAA
ENST00000397763.5:c.1608+57_1608+71delinsTTGCTGGGAACACAA	ENSP00000380870.1:n.1608+57_1608+71delinsTTGCTGGGAACACAA
ENST00000409416.5:c.1608+57_1608+71delinsTTGCTGGGAACACAA	ENSP00000387115.1:n.1608+57_1608+71delinsTTGCTGGGAACACAA
ENST00000413758.1:c.231+57_231+71delinsTTGCTGGGAACACAA	ENSP00000395751.1:n.231+57_231+71delinsTTGCTGGGAACACAA
NM_001849.3:c.1608+57_1608+71delinsTTGCTGGGAACACAA , LRG_476t1:c.1608+57_1608+71delinsTTGCTGGGAACACAA	NP_001840.3:n.1608+57_1608+71delinsTTGCTGGGAACACAA
NM_058174.2:c.1608+57_1608+71delinsTTGCTGGGAACACAA	NP_478054.2:n.1608+57_1608+71delinsTTGCTGGGAACACAA
NM_058175.2:c.1608+57_1608+71delinsTTGCTGGGAACACAA	NP_478055.2:n.1608+57_1608+71delinsTTGCTGGGAACACAA
XM_011529451.1:c.1608+57_1608+71delinsTTGCTGGGAACACAA	XP_011527753.1:n.1608+57_1608+71delinsTTGCTGGGAACACAA
XM_011529452.1:c.1608+57_1608+71delinsTTGCTGGGAACACAA	XP_011527754.1:n.1608+57_1608+71delinsTTGCTGGGAACACAA
XR_937438.1:n.1731+57_1731+71delinsTTGCTGGGAACACAA
XR_937439.1:n.1731+57_1731+71delinsTTGCTGGGAACACAA
XR_937438.2:n.1738+57_1738+71delinsTTGCTGGGAACACAA
XR_937439.2:n.1738+57_1738+71delinsTTGCTGGGAACACAA
NM_001849.4:c.1608+57_1608+71delinsTTGCTGGGAACACAA MANE Select	NP_001840.3:n.1608+57_1608+71delinsTTGCTGGGAACACAA
NM_058174.3:c.1608+57_1608+71delinsTTGCTGGGAACACAA MANE Plus Clinical	NP_478054.2:n.1608+57_1608+71delinsTTGCTGGGAACACAA
NM_058175.3:c.1608+57_1608+71delinsTTGCTGGGAACACAA	NP_478055.2:n.1608+57_1608+71delinsTTGCTGGGAACACAA