Canonical Allele Identifier: CA2818100912

Gene: COL6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46114052_46114053del , CM000683.2:g.46114052_46114053del	GRCh38
NC_000021.8:g.47533966_47533967del , CM000683.1:g.47533966_47533967del	GRCh37
NC_000021.7:g.46358394_46358395del	NCBI36
NG_008675.1:g.20934_20935del , LRG_476:g.20934_20935del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.780_781del MANE Plus Clinical	ENSP00000380870.1:p.Lys261GlyfsTer14
ENST00000300527.9:c.780_781del MANE Select	ENSP00000300527.4:p.Lys261GlyfsTer14
ENST00000409416.6:c.780_781del	ENSP00000387115.1:p.Lys261GlyfsTer14
ENST00000300527.8:c.780_781del	ENSP00000300527.4:p.Lys261GlyfsTer14
ENST00000310645.9:c.780_781del	ENSP00000312529.5:p.Lys261GlyfsTer14
ENST00000397763.5:c.780_781del	ENSP00000380870.1:p.Lys261GlyfsTer14
ENST00000409416.5:c.780_781del	ENSP00000387115.1:p.Lys261GlyfsTer14
ENST00000485591.1:n.436_437del
NM_001849.3:c.780_781del , LRG_476t1:c.780_781del	NP_001840.3:p.Lys261GlyfsTer14
NM_058174.2:c.780_781del	NP_478054.2:p.Lys261GlyfsTer14
NM_058175.2:c.780_781del	NP_478055.2:p.Lys261GlyfsTer14
XM_011529451.1:c.780_781del	XP_011527753.1:p.Lys261GlyfsTer14
XM_011529452.1:c.780_781del	XP_011527754.1:p.Lys261GlyfsTer14
XR_937438.1:n.903_904del
XR_937439.1:n.903_904del
XR_937438.2:n.910_911del
XR_937439.2:n.910_911del
NM_001849.4:c.780_781del MANE Select	NP_001840.3:p.Lys261GlyfsTer14
NM_058174.3:c.780_781del MANE Plus Clinical	NP_478054.2:p.Lys261GlyfsTer14
NM_058175.3:c.780_781del	NP_478055.2:p.Lys261GlyfsTer14