Canonical Allele Identifier: CA638497858

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 1503761
• ClinVar RCV Id: RCV002025687
• dbSNP Id: rs1491048605
• gnomAD v2: 21-47545375-CCA-C
• gnomAD v4: 21-46125461-CCA-C
• MyVariant Identifiers: chr21:g.47545376_47545377del (hg19) ; chr21:g.46125462_46125463del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125462_46125463del , CM000683.2:g.46125462_46125463del	GRCh38
NC_000021.8:g.47545376_47545377del , CM000683.1:g.47545376_47545377del	GRCh37
NC_000021.7:g.46369804_46369805del	NCBI36
NG_008675.1:g.32344_32345del , LRG_476:g.32344_32345del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1817-3_1817-2del MANE Plus Clinical	ENSP00000380870.1:n.1817-3_1817-2del
ENST00000300527.9:c.1817-3_1817-2del MANE Select	ENSP00000300527.4:n.1817-3_1817-2del
ENST00000409416.6:c.1817-3_1817-2del	ENSP00000387115.1:n.1817-3_1817-2del
ENST00000300527.8:c.1817-3_1817-2del	ENSP00000300527.4:n.1817-3_1817-2del
ENST00000310645.9:c.1817-3_1817-2del	ENSP00000312529.5:n.1817-3_1817-2del
ENST00000397763.5:c.1817-3_1817-2del	ENSP00000380870.1:n.1817-3_1817-2del
ENST00000409416.5:c.1817-3_1817-2del	ENSP00000387115.1:n.1817-3_1817-2del
ENST00000413758.1:c.485_486del	ENSP00000395751.1:p.Pro162ArgfsTer3
NM_001849.3:c.1817-3_1817-2del , LRG_476t1:c.1817-3_1817-2del	NP_001840.3:n.1817-3_1817-2del
NM_058174.2:c.1817-3_1817-2del	NP_478054.2:n.1817-3_1817-2del
NM_058175.2:c.1817-3_1817-2del	NP_478055.2:n.1817-3_1817-2del
XM_011529451.1:c.1817-3_1817-2del	XP_011527753.1:n.1817-3_1817-2del
XM_011529452.1:c.1817-3_1817-2del	XP_011527754.1:n.1817-3_1817-2del
XR_937438.1:n.1894-3_1894-2del
XR_937439.1:n.1894-3_1894-2del
XR_937438.2:n.1901-3_1901-2del
XR_937439.2:n.1901-3_1901-2del
NM_001849.4:c.1817-3_1817-2del MANE Select	NP_001840.3:n.1817-3_1817-2del
NM_058174.3:c.1817-3_1817-2del MANE Plus Clinical	NP_478054.2:n.1817-3_1817-2del
NM_058175.3:c.1817-3_1817-2del	NP_478055.2:n.1817-3_1817-2del