Canonical Allele Identifier: CA10072300

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 2724081
• ClinVar RCV Id: RCV003518458
• dbSNP Id: rs774487338
• ExAC: 21:47545376 C / CA
• gnomAD v2: 21-47545376-C-CA
• gnomAD v3: 21-46125462-C-CA
• gnomAD v4: 21-46125462-C-CA
• MyVariant Identifiers: chr21:g.47545376_47545377insA (hg19) ; chr21:g.46125462_46125463insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125463dup , CM000683.2:g.46125463dup	GRCh38
NC_000021.8:g.47545377dup , CM000683.1:g.47545377dup	GRCh37
NC_000021.7:g.46369805dup	NCBI36
NG_008675.1:g.32345dup , LRG_476:g.32345dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1817-2dup MANE Plus Clinical	ENSP00000380870.1:n.1817-2dup
ENST00000300527.9:c.1817-2dup MANE Select	ENSP00000300527.4:n.1817-2dup
ENST00000409416.6:c.1817-2dup	ENSP00000387115.1:n.1817-2dup
ENST00000300527.8:c.1817-2dup	ENSP00000300527.4:n.1817-2dup
ENST00000310645.9:c.1817-2dup	ENSP00000312529.5:n.1817-2dup
ENST00000397763.5:c.1817-2dup	ENSP00000380870.1:n.1817-2dup
ENST00000409416.5:c.1817-2dup	ENSP00000387115.1:n.1817-2dup
ENST00000413758.1:c.486dup	ENSP00000395751.1:p.Asp163ArgfsTer3
NM_001849.3:c.1817-2dup , LRG_476t1:c.1817-2dup	NP_001840.3:n.1817-2dup
NM_058174.2:c.1817-2dup	NP_478054.2:n.1817-2dup
NM_058175.2:c.1817-2dup	NP_478055.2:n.1817-2dup
XM_011529451.1:c.1817-2dup	XP_011527753.1:n.1817-2dup
XM_011529452.1:c.1817-2dup	XP_011527754.1:n.1817-2dup
XR_937438.1:n.1894-2dup
XR_937439.1:n.1894-2dup
XR_937438.2:n.1901-2dup
XR_937439.2:n.1901-2dup
NM_001849.4:c.1817-2dup MANE Select	NP_001840.3:n.1817-2dup
NM_058174.3:c.1817-2dup MANE Plus Clinical	NP_478054.2:n.1817-2dup
NM_058175.3:c.1817-2dup	NP_478055.2:n.1817-2dup