Canonical Allele Identifier: CA2392507582

Gene: COL6A2

Linked Data

• dbSNP Id: rs2078655173
• gnomAD v4: 21-46125812-GCCACGAGGGCACCTTTGAGGCCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125813_46125835del , CM000683.2:g.46125813_46125835del	GRCh38
NC_000021.8:g.47545727_47545749del , CM000683.1:g.47545727_47545749del	GRCh37
NC_000021.7:g.46370155_46370177del	NCBI36
NG_008675.1:g.32695_32717del , LRG_476:g.32695_32717del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1998_2020del MANE Plus Clinical	ENSP00000380870.1:p.His667ProfsTer?
ENST00000300527.9:c.1998_2020del MANE Select	ENSP00000300527.4:p.His667ProfsTer?
ENST00000409416.6:c.1998_2020del	ENSP00000387115.1:p.His667ProfsTer?
ENST00000300527.8:c.1998_2020del	ENSP00000300527.4:p.His667ProfsTer?
ENST00000310645.9:c.1998_2020del	ENSP00000312529.5:p.His667ProfsTer?
ENST00000397763.5:c.1998_2020del	ENSP00000380870.1:p.His667ProfsTer?
ENST00000409416.5:c.1998_2020del	ENSP00000387115.1:p.His667ProfsTer?
ENST00000413758.1:c.669_691del	ENSP00000395751.1:p.His224ProfsTer?
NM_001849.3:c.1998_2020del , LRG_476t1:c.1998_2020del	NP_001840.3:p.His667ProfsTer?
NM_058174.2:c.1998_2020del	NP_478054.2:p.His667ProfsTer?
NM_058175.2:c.1998_2020del	NP_478055.2:p.His667ProfsTer?
XM_011529451.1:c.1998_2020del	XP_011527753.1:p.His667ProfsTer?
XM_011529452.1:c.1998_2020del	XP_011527754.1:p.His667ProfsTer?
XR_937438.1:n.2075_2097del
XR_937439.1:n.2075_2097del
XR_937438.2:n.2082_2104del
XR_937439.2:n.2082_2104del
NM_001849.4:c.1998_2020del MANE Select	NP_001840.3:p.His667ProfsTer?
NM_058174.3:c.1998_2020del MANE Plus Clinical	NP_478054.2:p.His667ProfsTer?
NM_058175.3:c.1998_2020del	NP_478055.2:p.His667ProfsTer?