Canonical Allele Identifier: CA2392504464

Gene: COL6A2

Linked Data

• dbSNP Id: rs2078574285
• gnomAD v4: 21-46122019-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46122020_46122021del , CM000683.2:g.46122020_46122021del	GRCh38
NC_000021.8:g.47541934_47541935del , CM000683.1:g.47541934_47541935del	GRCh37
NC_000021.7:g.46366362_46366363del	NCBI36
NG_008675.1:g.28902_28903del , LRG_476:g.28902_28903del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1522-88_1522-87del MANE Plus Clinical	ENSP00000380870.1:n.1522-88_1522-87del
ENST00000300527.9:c.1522-88_1522-87del MANE Select	ENSP00000300527.4:n.1522-88_1522-87del
ENST00000409416.6:c.1522-88_1522-87del	ENSP00000387115.1:n.1522-88_1522-87del
ENST00000300527.8:c.1522-88_1522-87del	ENSP00000300527.4:n.1522-88_1522-87del
ENST00000310645.9:c.1522-88_1522-87del	ENSP00000312529.5:n.1522-88_1522-87del
ENST00000397763.5:c.1522-88_1522-87del	ENSP00000380870.1:n.1522-88_1522-87del
ENST00000409416.5:c.1522-88_1522-87del	ENSP00000387115.1:n.1522-88_1522-87del
ENST00000413758.1:c.145-88_145-87del	ENSP00000395751.1:n.145-88_145-87del
NM_001849.3:c.1522-88_1522-87del , LRG_476t1:c.1522-88_1522-87del	NP_001840.3:n.1522-88_1522-87del
NM_058174.2:c.1522-88_1522-87del	NP_478054.2:n.1522-88_1522-87del
NM_058175.2:c.1522-88_1522-87del	NP_478055.2:n.1522-88_1522-87del
XM_011529451.1:c.1522-88_1522-87del	XP_011527753.1:n.1522-88_1522-87del
XM_011529452.1:c.1522-88_1522-87del	XP_011527754.1:n.1522-88_1522-87del
XR_937438.1:n.1645-88_1645-87del
XR_937439.1:n.1645-88_1645-87del
XR_937438.2:n.1652-88_1652-87del
XR_937439.2:n.1652-88_1652-87del
NM_001849.4:c.1522-88_1522-87del MANE Select	NP_001840.3:n.1522-88_1522-87del
NM_058174.3:c.1522-88_1522-87del MANE Plus Clinical	NP_478054.2:n.1522-88_1522-87del
NM_058175.3:c.1522-88_1522-87del	NP_478055.2:n.1522-88_1522-87del