Canonical Allele Identifier: CA2695230341

Gene: COL6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46115924_46115925del , CM000683.2:g.46115924_46115925del	GRCh38
NC_000021.8:g.47535838_47535839del , CM000683.1:g.47535838_47535839del	GRCh37
NC_000021.7:g.46360266_46360267del	NCBI36
NG_008675.1:g.22806_22807del , LRG_476:g.22806_22807del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.854_855del MANE Plus Clinical	ENSP00000380870.1:p.Gln285ArgfsTer26
ENST00000300527.9:c.854_855del MANE Select	ENSP00000300527.4:p.Gln285ArgfsTer26
ENST00000409416.6:c.854_855del	ENSP00000387115.1:p.Gln285ArgfsTer26
ENST00000300527.8:c.854_855del	ENSP00000300527.4:p.Gln285ArgfsTer26
ENST00000310645.9:c.854_855del	ENSP00000312529.5:p.Gln285ArgfsTer26
ENST00000397763.5:c.854_855del	ENSP00000380870.1:p.Gln285ArgfsTer26
ENST00000409416.5:c.854_855del	ENSP00000387115.1:p.Gln285ArgfsTer26
ENST00000485591.1:n.510_511del
NM_001849.3:c.854_855del , LRG_476t1:c.854_855del	NP_001840.3:p.Gln285ArgfsTer26
NM_058174.2:c.854_855del	NP_478054.2:p.Gln285ArgfsTer26
NM_058175.2:c.854_855del	NP_478055.2:p.Gln285ArgfsTer26
XM_011529451.1:c.854_855del	XP_011527753.1:p.Gln285ArgfsTer26
XM_011529452.1:c.854_855del	XP_011527754.1:p.Gln285ArgfsTer26
XR_937438.1:n.977_978del
XR_937439.1:n.977_978del
XR_937438.2:n.984_985del
XR_937439.2:n.984_985del
NM_001849.4:c.854_855del MANE Select	NP_001840.3:p.Gln285ArgfsTer26
NM_058174.3:c.854_855del MANE Plus Clinical	NP_478054.2:p.Gln285ArgfsTer26
NM_058175.3:c.854_855del	NP_478055.2:p.Gln285ArgfsTer26