Canonical Allele Identifier: CA1022877405

Gene: COL6A2

Linked Data

• dbSNP Id: rs1721803609
• gnomAD v3: 21-46114415-ACT-A
• gnomAD v4: 21-46114415-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46114418_46114419del , CM000683.2:g.46114418_46114419del	GRCh38
NC_000021.8:g.47534332_47534333del , CM000683.1:g.47534332_47534333del	GRCh37
NC_000021.7:g.46358760_46358761del	NCBI36
NG_008675.1:g.21300_21301del , LRG_476:g.21300_21301del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.801+345_801+346del MANE Plus Clinical	ENSP00000380870.1:n.801+345_801+346del
ENST00000300527.9:c.801+345_801+346del MANE Select	ENSP00000300527.4:n.801+345_801+346del
ENST00000409416.6:c.801+345_801+346del	ENSP00000387115.1:n.801+345_801+346del
ENST00000300527.8:c.801+345_801+346del	ENSP00000300527.4:n.801+345_801+346del
ENST00000310645.9:c.801+345_801+346del	ENSP00000312529.5:n.801+345_801+346del
ENST00000397763.5:c.801+345_801+346del	ENSP00000380870.1:n.801+345_801+346del
ENST00000409416.5:c.801+345_801+346del	ENSP00000387115.1:n.801+345_801+346del
ENST00000485591.1:n.457+345_457+346del
NM_001849.3:c.801+345_801+346del , LRG_476t1:c.801+345_801+346del	NP_001840.3:n.801+345_801+346del
NM_058174.2:c.801+345_801+346del	NP_478054.2:n.801+345_801+346del
NM_058175.2:c.801+345_801+346del	NP_478055.2:n.801+345_801+346del
XM_011529451.1:c.801+345_801+346del	XP_011527753.1:n.801+345_801+346del
XM_011529452.1:c.801+345_801+346del	XP_011527754.1:n.801+345_801+346del
XR_937438.1:n.924+345_924+346del
XR_937439.1:n.924+345_924+346del
XR_937438.2:n.931+345_931+346del
XR_937439.2:n.931+345_931+346del
NM_001849.4:c.801+345_801+346del MANE Select	NP_001840.3:n.801+345_801+346del
NM_058174.3:c.801+345_801+346del MANE Plus Clinical	NP_478054.2:n.801+345_801+346del
NM_058175.3:c.801+345_801+346del	NP_478055.2:n.801+345_801+346del