Canonical Allele Identifier: CA2654968707

Gene: COL6A2

Linked Data

• gnomAD v4: 21-46114076-AAGATGCCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46114081_46114088del , CM000683.2:g.46114081_46114088del	GRCh38
NC_000021.8:g.47533995_47534002del , CM000683.1:g.47533995_47534002del	GRCh37
NC_000021.7:g.46358423_46358430del	NCBI36
NG_008675.1:g.20963_20970del , LRG_476:g.20963_20970del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.801+8_801+15del MANE Plus Clinical	ENSP00000380870.1:n.801+8_801+15del
ENST00000300527.9:c.801+8_801+15del MANE Select	ENSP00000300527.4:n.801+8_801+15del
ENST00000409416.6:c.801+8_801+15del	ENSP00000387115.1:n.801+8_801+15del
ENST00000300527.8:c.801+8_801+15del	ENSP00000300527.4:n.801+8_801+15del
ENST00000310645.9:c.801+8_801+15del	ENSP00000312529.5:n.801+8_801+15del
ENST00000397763.5:c.801+8_801+15del	ENSP00000380870.1:n.801+8_801+15del
ENST00000409416.5:c.801+8_801+15del	ENSP00000387115.1:n.801+8_801+15del
ENST00000485591.1:n.457+8_457+15del
NM_001849.3:c.801+8_801+15del , LRG_476t1:c.801+8_801+15del	NP_001840.3:n.801+8_801+15del
NM_058174.2:c.801+8_801+15del	NP_478054.2:n.801+8_801+15del
NM_058175.2:c.801+8_801+15del	NP_478055.2:n.801+8_801+15del
XM_011529451.1:c.801+8_801+15del	XP_011527753.1:n.801+8_801+15del
XM_011529452.1:c.801+8_801+15del	XP_011527754.1:n.801+8_801+15del
XR_937438.1:n.924+8_924+15del
XR_937439.1:n.924+8_924+15del
XR_937438.2:n.931+8_931+15del
XR_937439.2:n.931+8_931+15del
NM_001849.4:c.801+8_801+15del MANE Select	NP_001840.3:n.801+8_801+15del
NM_058174.3:c.801+8_801+15del MANE Plus Clinical	NP_478054.2:n.801+8_801+15del
NM_058175.3:c.801+8_801+15del	NP_478055.2:n.801+8_801+15del