Canonical Allele Identifier: CA239826

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 194041
• ClinVar RCV Id: RCV000174304 ; RCV000300853 ; RCV000353406 ; RCV000762045 ; RCV001086194 ; RCV004539608
• dbSNP Id: rs199929757
• ExAC: 21:47537804 C / G
• gnomAD v2: 21-47537804-C-G
• gnomAD v3: 21-46117890-C-G
• gnomAD v4: 21-46117890-C-G
• MyVariant Identifiers: chr21:g.47537804C>G (hg19) ; chr21:g.46117890C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46117890C>G , CM000683.2:g.46117890C>G	GRCh38
NC_000021.8:g.47537804C>G , CM000683.1:g.47537804C>G	GRCh37
NC_000021.7:g.46362232C>G	NCBI36
NG_008675.1:g.24772C>G , LRG_476:g.24772C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1070C>G MANE Plus Clinical	ENSP00000380870.1:p.Pro357Arg
ENST00000300527.9:c.1070C>G MANE Select	ENSP00000300527.4:p.Pro357Arg
ENST00000409416.6:c.1070C>G	ENSP00000387115.1:p.Pro357Arg
ENST00000300527.8:c.1070C>G	ENSP00000300527.4:p.Pro357Arg
ENST00000310645.9:c.1070C>G	ENSP00000312529.5:p.Pro357Arg
ENST00000397763.5:c.1070C>G	ENSP00000380870.1:p.Pro357Arg
ENST00000409416.5:c.1070C>G	ENSP00000387115.1:p.Pro357Arg
NM_001849.3:c.1070C>G , LRG_476t1:c.1070C>G	NP_001840.3:p.Pro357Arg
NM_058174.2:c.1070C>G	NP_478054.2:p.Pro357Arg
NM_058175.2:c.1070C>G	NP_478055.2:p.Pro357Arg
XM_011529451.1:c.1070C>G	XP_011527753.1:p.Pro357Arg
XM_011529452.1:c.1070C>G	XP_011527754.1:p.Pro357Arg
XR_937438.1:n.1193C>G
XR_937439.1:n.1193C>G
XR_937438.2:n.1200C>G
XR_937439.2:n.1200C>G
NM_001849.4:c.1070C>G MANE Select	NP_001840.3:p.Pro357Arg
NM_058174.3:c.1070C>G MANE Plus Clinical	NP_478054.2:p.Pro357Arg
NM_058175.3:c.1070C>G	NP_478055.2:p.Pro357Arg