Canonical Allele Identifier: CA10071311

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 286046
• ClinVar RCV Id: RCV000327665 ; RCV000365882 ; RCV000372828 ; RCV000725775 ; RCV001082800 ; RCV003920101
• dbSNP Id: rs140929054
• ExAC: 21:47532269 C / T
• gnomAD v2: 21-47532269-C-T
• gnomAD v3: 21-46112355-C-T
• gnomAD v4: 21-46112355-C-T
• MyVariant Identifiers: chr21:g.47532269C>T (hg19) ; chr21:g.46112355C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46112355C>T , CM000683.2:g.46112355C>T	GRCh38
NC_000021.8:g.47532269C>T , CM000683.1:g.47532269C>T	GRCh37
NC_000021.7:g.46356697C>T	NCBI36
NG_008675.1:g.19237C>T , LRG_476:g.19237C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000397763.6:c.492C>T MANE Plus Clinical	ENSP00000380870.1:p.His164=
ENST00000300527.9:c.492C>T MANE Select	ENSP00000300527.4:p.His164=
ENST00000409416.6:c.492C>T	ENSP00000387115.1:p.His164=
ENST00000300527.8:c.492C>T	ENSP00000300527.4:p.His164=
ENST00000310645.9:c.492C>T	ENSP00000312529.5:p.His164=
ENST00000397763.5:c.492C>T	ENSP00000380870.1:p.His164=
ENST00000409416.5:c.492C>T	ENSP00000387115.1:p.His164=
ENST00000436769.5:c.492C>T	ENSP00000390418.1:p.His164=
NM_001849.3:c.492C>T , LRG_476t1:c.492C>T	NP_001840.3:p.His164=
NM_058174.2:c.492C>T	NP_478054.2:p.His164=
NM_058175.2:c.492C>T	NP_478055.2:p.His164=
XM_011529451.1:c.492C>T	XP_011527753.1:p.His164=
XM_011529452.1:c.492C>T	XP_011527754.1:p.His164=
XR_937438.1:n.615C>T
XR_937439.1:n.615C>T
XR_937438.2:n.622C>T
XR_937439.2:n.622C>T
NM_001849.4:c.492C>T MANE Select	NP_001840.3:p.His164=
NM_058174.3:c.492C>T MANE Plus Clinical	NP_478054.2:p.His164=
NM_058175.3:c.492C>T	NP_478055.2:p.His164=