Canonical Allele Identifier: CA240865

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 194729
• ClinVar RCV Id: RCV000249787 ; RCV000355395 ; RCV000391111 ; RCV000724248 ; RCV001087783
• dbSNP Id: rs149077114
• ExAC: 21:47541016 T / C
• gnomAD v2: 21-47541016-T-C
• gnomAD v3: 21-46121102-T-C
• gnomAD v4: 21-46121102-T-C
• MyVariant Identifiers: chr21:g.47541016T>C (hg19) ; chr21:g.46121102T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46121102T>C , CM000683.2:g.46121102T>C	GRCh38
NC_000021.8:g.47541016T>C , CM000683.1:g.47541016T>C	GRCh37
NC_000021.7:g.46365444T>C	NCBI36
NG_008675.1:g.27984T>C , LRG_476:g.27984T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1437T>C MANE Plus Clinical	ENSP00000380870.1:p.Ala479=
ENST00000300527.9:c.1437T>C MANE Select	ENSP00000300527.4:p.Ala479=
ENST00000409416.6:c.1437T>C	ENSP00000387115.1:p.Ala479=
ENST00000300527.8:c.1437T>C	ENSP00000300527.4:p.Ala479=
ENST00000310645.9:c.1437T>C	ENSP00000312529.5:p.Ala479=
ENST00000397763.5:c.1437T>C	ENSP00000380870.1:p.Ala479=
ENST00000409416.5:c.1437T>C	ENSP00000387115.1:p.Ala479=
ENST00000413758.1:c.60T>C	ENSP00000395751.1:p.Ala20=
NM_001849.3:c.1437T>C , LRG_476t1:c.1437T>C	NP_001840.3:p.Ala479=
NM_058174.2:c.1437T>C	NP_478054.2:p.Ala479=
NM_058175.2:c.1437T>C	NP_478055.2:p.Ala479=
XM_011529451.1:c.1437T>C	XP_011527753.1:p.Ala479=
XM_011529452.1:c.1437T>C	XP_011527754.1:p.Ala479=
XR_937438.1:n.1560T>C
XR_937439.1:n.1560T>C
XR_937438.2:n.1567T>C
XR_937439.2:n.1567T>C
NM_001849.4:c.1437T>C MANE Select	NP_001840.3:p.Ala479=
NM_058174.3:c.1437T>C MANE Plus Clinical	NP_478054.2:p.Ala479=
NM_058175.3:c.1437T>C	NP_478055.2:p.Ala479=