Canonical Allele Identifier: CA10072289

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 290341
• ClinVar RCV Id: RCV000286795 ; RCV000377799 ; RCV000388843 ; RCV000559178
• dbSNP Id: rs149954350
• ExAC: 21:47545369 A / ACC
• gnomAD v2: 21-47545369-A-ACC
• gnomAD v3: 21-46125455-A-ACC
• gnomAD v4: 21-46125455-A-ACC
• MyVariant Identifiers: chr21:g.47545375_47545376dupCC (hg19) ; chr21:g.47545376_47545377insCC (hg19) ; chr21:g.47545370_47545371insCC (hg19) ; chr21:g.47545369_47545370insCC (hg19) ; chr21:g.46125461_46125462dupCC (hg38) ; chr21:g.46125462_46125463insCC (hg38) ; chr21:g.46125456_46125457insCC (hg38) ; chr21:g.46125455_46125456insCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125461_46125462dup , CM000683.2:g.46125461_46125462dup	GRCh38
NC_000021.8:g.47545375_47545376dup , CM000683.1:g.47545375_47545376dup	GRCh37
NC_000021.7:g.46369803_46369804dup	NCBI36
NG_008675.1:g.32343_32344dup , LRG_476:g.32343_32344dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1817-4_1817-3dup MANE Plus Clinical	ENSP00000380870.1:n.1817-4_1817-3dup
ENST00000300527.9:c.1817-4_1817-3dup MANE Select	ENSP00000300527.4:n.1817-4_1817-3dup
ENST00000409416.6:c.1817-4_1817-3dup	ENSP00000387115.1:n.1817-4_1817-3dup
ENST00000300527.8:c.1817-4_1817-3dup	ENSP00000300527.4:n.1817-4_1817-3dup
ENST00000310645.9:c.1817-4_1817-3dup	ENSP00000312529.5:n.1817-4_1817-3dup
ENST00000397763.5:c.1817-4_1817-3dup	ENSP00000380870.1:n.1817-4_1817-3dup
ENST00000409416.5:c.1817-4_1817-3dup	ENSP00000387115.1:n.1817-4_1817-3dup
ENST00000413758.1:c.484_485dup	ENSP00000395751.1:p.Asp163GlnfsTer?
NM_001849.3:c.1817-4_1817-3dup , LRG_476t1:c.1817-4_1817-3dup	NP_001840.3:n.1817-4_1817-3dup
NM_058174.2:c.1817-4_1817-3dup	NP_478054.2:n.1817-4_1817-3dup
NM_058175.2:c.1817-4_1817-3dup	NP_478055.2:n.1817-4_1817-3dup
XM_011529451.1:c.1817-4_1817-3dup	XP_011527753.1:n.1817-4_1817-3dup
XM_011529452.1:c.1817-4_1817-3dup	XP_011527754.1:n.1817-4_1817-3dup
XR_937438.1:n.1894-4_1894-3dup
XR_937439.1:n.1894-4_1894-3dup
XR_937438.2:n.1901-4_1901-3dup
XR_937439.2:n.1901-4_1901-3dup
NM_001849.4:c.1817-4_1817-3dup MANE Select	NP_001840.3:n.1817-4_1817-3dup
NM_058174.3:c.1817-4_1817-3dup MANE Plus Clinical	NP_478054.2:n.1817-4_1817-3dup
NM_058175.3:c.1817-4_1817-3dup	NP_478055.2:n.1817-4_1817-3dup