Canonical Allele Identifier: CA10072340

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 287938
• ClinVar RCV Id: RCV000259742 ; RCV000348651 ; RCV000393023 ; RCV000873283 ; RCV001718584
• dbSNP Id: rs142002945
• ExAC: 21:47545507 G / A
• gnomAD v2: 21-47545507-G-A
• gnomAD v3: 21-46125593-G-A
• gnomAD v4: 21-46125593-G-A
• COSMIC: COSM2822391 ; COSM2822392 ; COSM2822393
• MyVariant Identifiers: chr21:g.47545507G>A (hg19) ; chr21:g.46125593G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125593G>A , CM000683.2:g.46125593G>A	GRCh38
NC_000021.8:g.47545507G>A , CM000683.1:g.47545507G>A	GRCh37
NC_000021.7:g.46369935G>A	NCBI36
NG_008675.1:g.32475G>A , LRG_476:g.32475G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1945G>A MANE Plus Clinical	ENSP00000380870.1:p.Ala649Thr
ENST00000300527.9:c.1945G>A MANE Select	ENSP00000300527.4:p.Ala649Thr
ENST00000409416.6:c.1945G>A	ENSP00000387115.1:p.Ala649Thr
ENST00000300527.8:c.1945G>A	ENSP00000300527.4:p.Ala649Thr
ENST00000310645.9:c.1945G>A	ENSP00000312529.5:p.Ala649Thr
ENST00000397763.5:c.1945G>A	ENSP00000380870.1:p.Ala649Thr
ENST00000409416.5:c.1945G>A	ENSP00000387115.1:p.Ala649Thr
ENST00000413758.1:c.616G>A	ENSP00000395751.1:p.Ala206Thr
NM_001849.3:c.1945G>A , LRG_476t1:c.1945G>A	NP_001840.3:p.Ala649Thr
NM_058174.2:c.1945G>A	NP_478054.2:p.Ala649Thr
NM_058175.2:c.1945G>A	NP_478055.2:p.Ala649Thr
XM_011529451.1:c.1945G>A	XP_011527753.1:p.Ala649Thr
XM_011529452.1:c.1945G>A	XP_011527754.1:p.Ala649Thr
XR_937438.1:n.2022G>A
XR_937439.1:n.2022G>A
XR_937438.2:n.2029G>A
XR_937439.2:n.2029G>A
NM_001849.4:c.1945G>A MANE Select	NP_001840.3:p.Ala649Thr
NM_058174.3:c.1945G>A MANE Plus Clinical	NP_478054.2:p.Ala649Thr
NM_058175.3:c.1945G>A	NP_478055.2:p.Ala649Thr