Canonical Allele Identifier: CA410541347

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 842860
• ClinVar RCV Id: RCV001045354
• dbSNP Id: rs564873527
• MyVariant Identifiers: chr21:g.47545783C>G (hg19) ; chr21:g.46125869C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125869C>G , CM000683.2:g.46125869C>G	GRCh38
NC_000021.8:g.47545783C>G , CM000683.1:g.47545783C>G	GRCh37
NC_000021.7:g.46370211C>G	NCBI36
NG_008675.1:g.32751C>G , LRG_476:g.32751C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.2054C>G MANE Plus Clinical	ENSP00000380870.1:p.Ser685Trp
ENST00000300527.9:c.2054C>G MANE Select	ENSP00000300527.4:p.Ser685Trp
ENST00000409416.6:c.2054C>G	ENSP00000387115.1:p.Ser685Trp
ENST00000300527.8:c.2054C>G	ENSP00000300527.4:p.Ser685Trp
ENST00000310645.9:c.2054C>G	ENSP00000312529.5:p.Ser685Trp
ENST00000397763.5:c.2054C>G	ENSP00000380870.1:p.Ser685Trp
ENST00000409416.5:c.2054C>G	ENSP00000387115.1:p.Ser685Trp
ENST00000413758.1:c.725C>G	ENSP00000395751.1:p.Ser242Trp
NM_001849.3:c.2054C>G , LRG_476t1:c.2054C>G	NP_001840.3:p.Ser685Trp
NM_058174.2:c.2054C>G	NP_478054.2:p.Ser685Trp
NM_058175.2:c.2054C>G	NP_478055.2:p.Ser685Trp
XM_011529451.1:c.2054C>G	XP_011527753.1:p.Ser685Trp
XM_011529452.1:c.2054C>G	XP_011527754.1:p.Ser685Trp
XR_937438.1:n.2131C>G
XR_937439.1:n.2131C>G
XR_937438.2:n.2138C>G
XR_937439.2:n.2138C>G
NM_001849.4:c.2054C>G MANE Select	NP_001840.3:p.Ser685Trp
NM_058174.3:c.2054C>G MANE Plus Clinical	NP_478054.2:p.Ser685Trp
NM_058175.3:c.2054C>G	NP_478055.2:p.Ser685Trp