Canonical Allele Identifier: CA410539722

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 476462
• ClinVar RCV Id: RCV000537082
• dbSNP Id: rs138948335
• MyVariant Identifiers: chr21:g.47545731G>T (hg19) ; chr21:g.46125817G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125817G>T , CM000683.2:g.46125817G>T	GRCh38
NC_000021.8:g.47545731G>T , CM000683.1:g.47545731G>T	GRCh37
NC_000021.7:g.46370159G>T	NCBI36
NG_008675.1:g.32699G>T , LRG_476:g.32699G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.2002G>T MANE Plus Clinical	ENSP00000380870.1:p.Glu668Ter
ENST00000300527.9:c.2002G>T MANE Select	ENSP00000300527.4:p.Glu668Ter
ENST00000409416.6:c.2002G>T	ENSP00000387115.1:p.Glu668Ter
ENST00000300527.8:c.2002G>T	ENSP00000300527.4:p.Glu668Ter
ENST00000310645.9:c.2002G>T	ENSP00000312529.5:p.Glu668Ter
ENST00000397763.5:c.2002G>T	ENSP00000380870.1:p.Glu668Ter
ENST00000409416.5:c.2002G>T	ENSP00000387115.1:p.Glu668Ter
ENST00000413758.1:c.673G>T	ENSP00000395751.1:p.Glu225Ter
NM_001849.3:c.2002G>T , LRG_476t1:c.2002G>T	NP_001840.3:p.Glu668Ter
NM_058174.2:c.2002G>T	NP_478054.2:p.Glu668Ter
NM_058175.2:c.2002G>T	NP_478055.2:p.Glu668Ter
XM_011529451.1:c.2002G>T	XP_011527753.1:p.Glu668Ter
XM_011529452.1:c.2002G>T	XP_011527754.1:p.Glu668Ter
XR_937438.1:n.2079G>T
XR_937439.1:n.2079G>T
XR_937438.2:n.2086G>T
XR_937439.2:n.2086G>T
NM_001849.4:c.2002G>T MANE Select	NP_001840.3:p.Glu668Ter
NM_058174.3:c.2002G>T MANE Plus Clinical	NP_478054.2:p.Glu668Ter
NM_058175.3:c.2002G>T	NP_478055.2:p.Glu668Ter