Canonical Allele Identifier: CA638182567

Gene: COL6A2

Linked Data

• dbSNP Id: rs369365391
• gnomAD v2: 21-47535979-C-G
• MyVariant Identifiers: chr21:g.47535979C>G (hg19) ; chr21:g.46116065C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46116065C>G , CM000683.2:g.46116065C>G	GRCh38
NC_000021.8:g.47535979C>G , CM000683.1:g.47535979C>G	GRCh37
NC_000021.7:g.46360407C>G	NCBI36
NG_008675.1:g.22947C>G , LRG_476:g.22947C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.900+12C>G MANE Plus Clinical	ENSP00000380870.1:n.900+12C>G
ENST00000300527.9:c.900+12C>G MANE Select	ENSP00000300527.4:n.900+12C>G
ENST00000409416.6:c.900+12C>G	ENSP00000387115.1:n.900+12C>G
ENST00000300527.8:c.900+12C>G	ENSP00000300527.4:n.900+12C>G
ENST00000310645.9:c.900+12C>G	ENSP00000312529.5:n.900+12C>G
ENST00000397763.5:c.900+12C>G	ENSP00000380870.1:n.900+12C>G
ENST00000409416.5:c.900+12C>G	ENSP00000387115.1:n.900+12C>G
ENST00000485591.1:n.556+12C>G
NM_001849.3:c.900+12C>G , LRG_476t1:c.900+12C>G	NP_001840.3:n.900+12C>G
NM_058174.2:c.900+12C>G	NP_478054.2:n.900+12C>G
NM_058175.2:c.900+12C>G	NP_478055.2:n.900+12C>G
XM_011529451.1:c.900+12C>G	XP_011527753.1:n.900+12C>G
XM_011529452.1:c.900+12C>G	XP_011527754.1:n.900+12C>G
XR_937438.1:n.1023+12C>G
XR_937439.1:n.1023+12C>G
XR_937438.2:n.1030+12C>G
XR_937439.2:n.1030+12C>G
NM_001849.4:c.900+12C>G MANE Select	NP_001840.3:n.900+12C>G
NM_058174.3:c.900+12C>G MANE Plus Clinical	NP_478054.2:n.900+12C>G
NM_058175.3:c.900+12C>G	NP_478055.2:n.900+12C>G