Canonical Allele Identifier: CA638497866

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 664052
• ClinVar RCV Id: RCV000822058
• dbSNP Id: rs1568939674
• gnomAD v2: 21-47545471-TTCG-T
• gnomAD v4: 21-46125557-TTCG-T
• COSMIC: COSM391188 ; COSM391189 ; COSM391190
• MyVariant Identifiers: chr21:g.47545472_47545474del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125560_46125562del , CM000683.2:g.46125560_46125562del	GRCh38
NC_000021.8:g.47545474_47545476del , CM000683.1:g.47545474_47545476del	GRCh37
NC_000021.7:g.46369902_46369904del	NCBI36
NG_008675.1:g.32442_32444del , LRG_476:g.32442_32444del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1912_1914del MANE Plus Clinical	ENSP00000380870.1:p.Val638del
ENST00000300527.9:c.1912_1914del MANE Select	ENSP00000300527.4:p.Val638del
ENST00000409416.6:c.1912_1914del	ENSP00000387115.1:p.Val638del
ENST00000300527.8:c.1912_1914del	ENSP00000300527.4:p.Val638del
ENST00000310645.9:c.1912_1914del	ENSP00000312529.5:p.Val638del
ENST00000397763.5:c.1912_1914del	ENSP00000380870.1:p.Val638del
ENST00000409416.5:c.1912_1914del	ENSP00000387115.1:p.Val638del
ENST00000413758.1:c.583_585del	ENSP00000395751.1:p.Val195del
NM_001849.3:c.1912_1914del , LRG_476t1:c.1912_1914del	NP_001840.3:p.Val638del
NM_058174.2:c.1912_1914del	NP_478054.2:p.Val638del
NM_058175.2:c.1912_1914del	NP_478055.2:p.Val638del
XM_011529451.1:c.1912_1914del	XP_011527753.1:p.Val638del
XM_011529452.1:c.1912_1914del	XP_011527754.1:p.Val638del
XR_937438.1:n.1989_1991del
XR_937439.1:n.1989_1991del
XR_937438.2:n.1996_1998del
XR_937439.2:n.1996_1998del
NM_001849.4:c.1912_1914del MANE Select	NP_001840.3:p.Val638del
NM_058174.3:c.1912_1914del MANE Plus Clinical	NP_478054.2:p.Val638del
NM_058175.3:c.1912_1914del	NP_478055.2:p.Val638del