Canonical Allele Identifier: CA10072429

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 501483
• ClinVar RCV Id: RCV000592598 ; RCV001500171
• dbSNP Id: rs370558215
• ExAC: 21:47545787 C / T
• gnomAD v2: 21-47545787-C-T
• gnomAD v3: 21-46125873-C-T
• gnomAD v4: 21-46125873-C-T
• MyVariant Identifiers: chr21:g.47545787C>T (hg19) ; chr21:g.46125873C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125873C>T , CM000683.2:g.46125873C>T	GRCh38
NC_000021.8:g.47545787C>T , CM000683.1:g.47545787C>T	GRCh37
NC_000021.7:g.46370215C>T	NCBI36
NG_008675.1:g.32755C>T , LRG_476:g.32755C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.2058C>T MANE Plus Clinical	ENSP00000380870.1:p.Ser686=
ENST00000300527.9:c.2058C>T MANE Select	ENSP00000300527.4:p.Ser686=
ENST00000409416.6:c.2058C>T	ENSP00000387115.1:p.Ser686=
ENST00000300527.8:c.2058C>T	ENSP00000300527.4:p.Ser686=
ENST00000310645.9:c.2058C>T	ENSP00000312529.5:p.Ser686=
ENST00000397763.5:c.2058C>T	ENSP00000380870.1:p.Ser686=
ENST00000409416.5:c.2058C>T	ENSP00000387115.1:p.Ser686=
ENST00000413758.1:c.729C>T	ENSP00000395751.1:p.Ser243=
NM_001849.3:c.2058C>T , LRG_476t1:c.2058C>T	NP_001840.3:p.Ser686=
NM_058174.2:c.2058C>T	NP_478054.2:p.Ser686=
NM_058175.2:c.2058C>T	NP_478055.2:p.Ser686=
XM_011529451.1:c.2058C>T	XP_011527753.1:p.Ser686=
XM_011529452.1:c.2058C>T	XP_011527754.1:p.Ser686=
XR_937438.1:n.2135C>T
XR_937439.1:n.2135C>T
XR_937438.2:n.2142C>T
XR_937439.2:n.2142C>T
NM_001849.4:c.2058C>T MANE Select	NP_001840.3:p.Ser686=
NM_058174.3:c.2058C>T MANE Plus Clinical	NP_478054.2:p.Ser686=
NM_058175.3:c.2058C>T	NP_478055.2:p.Ser686=