Canonical Allele Identifier: CA749808695

Gene: COL6A2

Linked Data

• dbSNP Id: rs1223520841
• gnomAD v3: 21-46122434-A-AGAGG
• gnomAD v4: 21-46122434-A-AGAGG
• MyVariant Identifiers: chr21:g.47542348_47542349insGAGG (hg19) ; chr21:g.46122434_46122435insGAGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46122439_46122442dup , CM000683.2:g.46122439_46122442dup	GRCh38
NC_000021.8:g.47542353_47542356dup , CM000683.1:g.47542353_47542356dup	GRCh37
NC_000021.7:g.46366781_46366784dup	NCBI36
NG_008675.1:g.29321_29324dup , LRG_476:g.29321_29324dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1573-57_1573-54dup MANE Plus Clinical	ENSP00000380870.1:n.1573-57_1573-54dup
ENST00000300527.9:c.1573-57_1573-54dup MANE Select	ENSP00000300527.4:n.1573-57_1573-54dup
ENST00000409416.6:c.1573-57_1573-54dup	ENSP00000387115.1:n.1573-57_1573-54dup
ENST00000300527.8:c.1573-57_1573-54dup	ENSP00000300527.4:n.1573-57_1573-54dup
ENST00000310645.9:c.1573-57_1573-54dup	ENSP00000312529.5:n.1573-57_1573-54dup
ENST00000397763.5:c.1573-57_1573-54dup	ENSP00000380870.1:n.1573-57_1573-54dup
ENST00000409416.5:c.1573-57_1573-54dup	ENSP00000387115.1:n.1573-57_1573-54dup
ENST00000413758.1:c.196-57_196-54dup	ENSP00000395751.1:n.196-57_196-54dup
NM_001849.3:c.1573-57_1573-54dup , LRG_476t1:c.1573-57_1573-54dup	NP_001840.3:n.1573-57_1573-54dup
NM_058174.2:c.1573-57_1573-54dup	NP_478054.2:n.1573-57_1573-54dup
NM_058175.2:c.1573-57_1573-54dup	NP_478055.2:n.1573-57_1573-54dup
XM_011529451.1:c.1573-57_1573-54dup	XP_011527753.1:n.1573-57_1573-54dup
XM_011529452.1:c.1573-57_1573-54dup	XP_011527754.1:n.1573-57_1573-54dup
XR_937438.1:n.1696-57_1696-54dup
XR_937439.1:n.1696-57_1696-54dup
XR_937438.2:n.1703-57_1703-54dup
XR_937439.2:n.1703-57_1703-54dup
NM_001849.4:c.1573-57_1573-54dup MANE Select	NP_001840.3:n.1573-57_1573-54dup
NM_058174.3:c.1573-57_1573-54dup MANE Plus Clinical	NP_478054.2:n.1573-57_1573-54dup
NM_058175.3:c.1573-57_1573-54dup	NP_478055.2:n.1573-57_1573-54dup