Canonical Allele Identifier: CA10071909

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 1017099
• ClinVar RCV Id: RCV001316199 ; RCV002543687
• dbSNP Id: rs755539822
• ExAC: 21:47541474 C / T
• gnomAD v2: 21-47541474-C-T
• gnomAD v3: 21-46121560-C-T
• gnomAD v4: 21-46121560-C-T
• MyVariant Identifiers: chr21:g.47541474C>T (hg19) ; chr21:g.46121560C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46121560C>T , CM000683.2:g.46121560C>T	GRCh38
NC_000021.8:g.47541474C>T , CM000683.1:g.47541474C>T	GRCh37
NC_000021.7:g.46365902C>T	NCBI36
NG_008675.1:g.28442C>T , LRG_476:g.28442C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1463C>T MANE Plus Clinical	ENSP00000380870.1:p.Ser488Phe
ENST00000300527.9:c.1463C>T MANE Select	ENSP00000300527.4:p.Ser488Phe
ENST00000409416.6:c.1463C>T	ENSP00000387115.1:p.Ser488Phe
ENST00000300527.8:c.1463C>T	ENSP00000300527.4:p.Ser488Phe
ENST00000310645.9:c.1463C>T	ENSP00000312529.5:p.Ser488Phe
ENST00000397763.5:c.1463C>T	ENSP00000380870.1:p.Ser488Phe
ENST00000409416.5:c.1463C>T	ENSP00000387115.1:p.Ser488Phe
ENST00000413758.1:c.86C>T	ENSP00000395751.1:p.Ser29Phe
NM_001849.3:c.1463C>T , LRG_476t1:c.1463C>T	NP_001840.3:p.Ser488Phe
NM_058174.2:c.1463C>T	NP_478054.2:p.Ser488Phe
NM_058175.2:c.1463C>T	NP_478055.2:p.Ser488Phe
XM_011529451.1:c.1463C>T	XP_011527753.1:p.Ser488Phe
XM_011529452.1:c.1463C>T	XP_011527754.1:p.Ser488Phe
XR_937438.1:n.1586C>T
XR_937439.1:n.1586C>T
XR_937438.2:n.1593C>T
XR_937439.2:n.1593C>T
NM_001849.4:c.1463C>T MANE Select	NP_001840.3:p.Ser488Phe
NM_058174.3:c.1463C>T MANE Plus Clinical	NP_478054.2:p.Ser488Phe
NM_058175.3:c.1463C>T	NP_478055.2:p.Ser488Phe