Canonical Allele Identifier: CA2577630030

Gene: COL6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125865_46125866del , CM000683.2:g.46125865_46125866del	GRCh38
NC_000021.8:g.47545779_47545780del , CM000683.1:g.47545779_47545780del	GRCh37
NC_000021.7:g.46370207_46370208del	NCBI36
NG_008675.1:g.32747_32748del , LRG_476:g.32747_32748del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.2050_2051del MANE Plus Clinical	ENSP00000380870.1:p.Leu684ValfsTer?
ENST00000300527.9:c.2050_2051del MANE Select	ENSP00000300527.4:p.Leu684ValfsTer?
ENST00000409416.6:c.2050_2051del	ENSP00000387115.1:p.Leu684ValfsTer?
ENST00000300527.8:c.2050_2051del	ENSP00000300527.4:p.Leu684ValfsTer?
ENST00000310645.9:c.2050_2051del	ENSP00000312529.5:p.Leu684ValfsTer?
ENST00000397763.5:c.2050_2051del	ENSP00000380870.1:p.Leu684ValfsTer?
ENST00000409416.5:c.2050_2051del	ENSP00000387115.1:p.Leu684ValfsTer?
ENST00000413758.1:c.721_722del	ENSP00000395751.1:p.Leu241ValfsTer?
NM_001849.3:c.2050_2051del , LRG_476t1:c.2050_2051del	NP_001840.3:p.Leu684ValfsTer?
NM_058174.2:c.2050_2051del	NP_478054.2:p.Leu684ValfsTer?
NM_058175.2:c.2050_2051del	NP_478055.2:p.Leu684ValfsTer?
XM_011529451.1:c.2050_2051del	XP_011527753.1:p.Leu684ValfsTer?
XM_011529452.1:c.2050_2051del	XP_011527754.1:p.Leu684ValfsTer?
XR_937438.1:n.2127_2128del
XR_937439.1:n.2127_2128del
XR_937438.2:n.2134_2135del
XR_937439.2:n.2134_2135del
NM_001849.4:c.2050_2051del MANE Select	NP_001840.3:p.Leu684ValfsTer?
NM_058174.3:c.2050_2051del MANE Plus Clinical	NP_478054.2:p.Leu684ValfsTer?
NM_058175.3:c.2050_2051del	NP_478055.2:p.Leu684ValfsTer?