Canonical Allele Identifier: CA1022865591

Gene: COL6A2

Linked Data

• gnomAD v3: 21-46121830-A-ACATCCTTCCTGAGGCAGGGCCTGAGGGCAGGGTGTGCG
• gnomAD v4: 21-46121830-A-ACATCCTTCCTGAGGCAGGGCCTGAGGGCAGGGTGTGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46121830_46121831insCATCCTTCCTGAGGCAGGGCCTGAGGGCAGGGTGTGCG , CM000683.2:g.46121830_46121831insCATCCTTCCTGAGGCAGGGCCTGAGGGCAGGGTGTGCG	GRCh38
NC_000021.8:g.47541744_47541745insCATCCTTCCTGAGGCAGGGCCTGAGGGCAGGGTGTGCG , CM000683.1:g.47541744_47541745insCATCCTTCCTGAGGCAGGGCCTGAGGGCAGGGTGTGCG	GRCh37
NC_000021.7:g.46366172_46366173insCATCCTTCCTGAGGCAGGGCCTGAGGGCAGGGTGTGCG	NCBI36
NG_008675.1:g.28712_28713insCATCCTTCCTGAGGCAGGGCCTGAGGGCAGGGTGTGCG , LRG_476:g.28712_28713insCATCCTTCCTGAGGCAGGGCCTGAGGGCAGGGTGTGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1521+212_1521+213insCATCCTTCCTGAGGCAGGGCCTGAGGGCAGGGTGTGCG MANE Plus Clinical	ENSP00000380870.1:n.1521+212_1521+213insCATCCTTCCTGAGGCAGGGCC...
ENST00000300527.9:c.1521+212_1521+213insCATCCTTCCTGAGGCAGGGCCTGAGGGCAGGGTGTGCG MANE Select	ENSP00000300527.4:n.1521+212_1521+213insCATCCTTCCTGAGGCAGGGCC...
ENST00000409416.6:c.1521+212_1521+213insCATCCTTCCTGAGGCAGGGCCTGAGGGCAGGGTGTGCG	ENSP00000387115.1:n.1521+212_1521+213insCATCCTTCCTGAGGCAGGGCC...
ENST00000300527.8:c.1521+212_1521+213insCATCCTTCCTGAGGCAGGGCCTGAGGGCAGGGTGTGCG	ENSP00000300527.4:n.1521+212_1521+213insCATCCTTCCTGAGGCAGGGCC...
ENST00000310645.9:c.1521+212_1521+213insCATCCTTCCTGAGGCAGGGCCTGAGGGCAGGGTGTGCG	ENSP00000312529.5:n.1521+212_1521+213insCATCCTTCCTGAGGCAGGGCC...
ENST00000397763.5:c.1521+212_1521+213insCATCCTTCCTGAGGCAGGGCCTGAGGGCAGGGTGTGCG	ENSP00000380870.1:n.1521+212_1521+213insCATCCTTCCTGAGGCAGGGCC...
ENST00000409416.5:c.1521+212_1521+213insCATCCTTCCTGAGGCAGGGCCTGAGGGCAGGGTGTGCG	ENSP00000387115.1:n.1521+212_1521+213insCATCCTTCCTGAGGCAGGGCC...
ENST00000413758.1:c.144+212_144+213insCATCCTTCCTGAGGCAGGGCCTGAGGGCAGGGTGTGCG	ENSP00000395751.1:n.144+212_144+213insCATCCTTCCTGAGGCAGGGCCTG...
NM_001849.3:c.1521+212_1521+213insCATCCTTCCTGAGGCAGGGCCTGAGGGCAGGGTGTGCG , LRG_476t1:c.1521+212_1521+213insCATCCTTCCTGAGGCAGGGCCTGAGGGCAGGGTGTGCG	NP_001840.3:n.1521+212_1521+213insCATCCTTCCTGAGGCAGGGCCTGAGGG...
NM_058174.2:c.1521+212_1521+213insCATCCTTCCTGAGGCAGGGCCTGAGGGCAGGGTGTGCG	NP_478054.2:n.1521+212_1521+213insCATCCTTCCTGAGGCAGGGCCTGAGGG...
NM_058175.2:c.1521+212_1521+213insCATCCTTCCTGAGGCAGGGCCTGAGGGCAGGGTGTGCG	NP_478055.2:n.1521+212_1521+213insCATCCTTCCTGAGGCAGGGCCTGAGGG...
XM_011529451.1:c.1521+212_1521+213insCATCCTTCCTGAGGCAGGGCCTGAGGGCAGGGTGTGCG	XP_011527753.1:n.1521+212_1521+213insCATCCTTCCTGAGGCAGGGCCTGA...
XM_011529452.1:c.1521+212_1521+213insCATCCTTCCTGAGGCAGGGCCTGAGGGCAGGGTGTGCG	XP_011527754.1:n.1521+212_1521+213insCATCCTTCCTGAGGCAGGGCCTGA...
XR_937438.1:n.1644+212_1644+213insCATCCTTCCTGAGGCAGGGCCTGAGGGCAGGGTGTGCG
XR_937439.1:n.1644+212_1644+213insCATCCTTCCTGAGGCAGGGCCTGAGGGCAGGGTGTGCG
XR_937438.2:n.1651+212_1651+213insCATCCTTCCTGAGGCAGGGCCTGAGGGCAGGGTGTGCG
XR_937439.2:n.1651+212_1651+213insCATCCTTCCTGAGGCAGGGCCTGAGGGCAGGGTGTGCG
NM_001849.4:c.1521+212_1521+213insCATCCTTCCTGAGGCAGGGCCTGAGGGCAGGGTGTGCG MANE Select	NP_001840.3:n.1521+212_1521+213insCATCCTTCCTGAGGCAGGGCCTGAGGG...
NM_058174.3:c.1521+212_1521+213insCATCCTTCCTGAGGCAGGGCCTGAGGGCAGGGTGTGCG MANE Plus Clinical	NP_478054.2:n.1521+212_1521+213insCATCCTTCCTGAGGCAGGGCCTGAGGG...
NM_058175.3:c.1521+212_1521+213insCATCCTTCCTGAGGCAGGGCCTGAGGGCAGGGTGTGCG	NP_478055.2:n.1521+212_1521+213insCATCCTTCCTGAGGCAGGGCCTGAGGG...