Canonical Allele Identifier: CA10071497

Gene: COL6A2

Linked Data

• dbSNP Id: rs765271575
• ExAC: 21:47535879 AGC / A
• gnomAD v2: 21-47535879-AGC-A
• MyVariant Identifiers: chr21:g.47535880_47535881del (hg19) ; chr21:g.46115966_46115967del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46115968_46115969del , CM000683.2:g.46115968_46115969del	GRCh38
NC_000021.8:g.47535882_47535883del , CM000683.1:g.47535882_47535883del	GRCh37
NC_000021.7:g.46360310_46360311del	NCBI36
NG_008675.1:g.22850_22851del , LRG_476:g.22850_22851del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.856-41_856-40del MANE Plus Clinical	ENSP00000380870.1:n.856-41_856-40del
ENST00000300527.9:c.856-41_856-40del MANE Select	ENSP00000300527.4:n.856-41_856-40del
ENST00000409416.6:c.856-41_856-40del	ENSP00000387115.1:n.856-41_856-40del
ENST00000300527.8:c.856-41_856-40del	ENSP00000300527.4:n.856-41_856-40del
ENST00000310645.9:c.856-41_856-40del	ENSP00000312529.5:n.856-41_856-40del
ENST00000397763.5:c.856-41_856-40del	ENSP00000380870.1:n.856-41_856-40del
ENST00000409416.5:c.856-41_856-40del	ENSP00000387115.1:n.856-41_856-40del
ENST00000485591.1:n.512-41_512-40del
NM_001849.3:c.856-41_856-40del , LRG_476t1:c.856-41_856-40del	NP_001840.3:n.856-41_856-40del
NM_058174.2:c.856-41_856-40del	NP_478054.2:n.856-41_856-40del
NM_058175.2:c.856-41_856-40del	NP_478055.2:n.856-41_856-40del
XM_011529451.1:c.856-41_856-40del	XP_011527753.1:n.856-41_856-40del
XM_011529452.1:c.856-41_856-40del	XP_011527754.1:n.856-41_856-40del
XR_937438.1:n.979-41_979-40del
XR_937439.1:n.979-41_979-40del
XR_937438.2:n.986-41_986-40del
XR_937439.2:n.986-41_986-40del
NM_001849.4:c.856-41_856-40del MANE Select	NP_001840.3:n.856-41_856-40del
NM_058174.3:c.856-41_856-40del MANE Plus Clinical	NP_478054.2:n.856-41_856-40del
NM_058175.3:c.856-41_856-40del	NP_478055.2:n.856-41_856-40del