Canonical Allele Identifier: CA10605400

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 286215
• ClinVar RCV Id: RCV000288156 ; RCV001855169
• dbSNP Id: rs794727715
• MyVariant Identifiers: chr21:g.47533988G>T (hg19) ; chr21:g.46114074G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46114074G>T , CM000683.2:g.46114074G>T	GRCh38
NC_000021.8:g.47533988G>T , CM000683.1:g.47533988G>T	GRCh37
NC_000021.7:g.46358416G>T	NCBI36
NG_008675.1:g.20956G>T , LRG_476:g.20956G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.801+1G>T MANE Plus Clinical	ENSP00000380870.1:n.801+1G>T
ENST00000300527.9:c.801+1G>T MANE Select	ENSP00000300527.4:n.801+1G>T
ENST00000409416.6:c.801+1G>T	ENSP00000387115.1:n.801+1G>T
ENST00000300527.8:c.801+1G>T	ENSP00000300527.4:n.801+1G>T
ENST00000310645.9:c.801+1G>T	ENSP00000312529.5:n.801+1G>T
ENST00000397763.5:c.801+1G>T	ENSP00000380870.1:n.801+1G>T
ENST00000409416.5:c.801+1G>T	ENSP00000387115.1:n.801+1G>T
ENST00000485591.1:n.457+1G>T
NM_001849.3:c.801+1G>T , LRG_476t1:c.801+1G>T	NP_001840.3:n.801+1G>T
NM_058174.2:c.801+1G>T	NP_478054.2:n.801+1G>T
NM_058175.2:c.801+1G>T	NP_478055.2:n.801+1G>T
XM_011529451.1:c.801+1G>T	XP_011527753.1:n.801+1G>T
XM_011529452.1:c.801+1G>T	XP_011527754.1:n.801+1G>T
XR_937438.1:n.924+1G>T
XR_937439.1:n.924+1G>T
XR_937438.2:n.931+1G>T
XR_937439.2:n.931+1G>T
NM_001849.4:c.801+1G>T MANE Select	NP_001840.3:n.801+1G>T
NM_058174.3:c.801+1G>T MANE Plus Clinical	NP_478054.2:n.801+1G>T
NM_058175.3:c.801+1G>T	NP_478055.2:n.801+1G>T