Canonical Allele Identifier: CA410522057

Gene: COL6A2

Linked Data

• MyVariant Identifiers: chr21:g.47532372C>A (hg19) ; chr21:g.46112458C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46112458C>A , CM000683.2:g.46112458C>A	GRCh38
NC_000021.8:g.47532372C>A , CM000683.1:g.47532372C>A	GRCh37
NC_000021.7:g.46356800C>A	NCBI36
NG_008675.1:g.19340C>A , LRG_476:g.19340C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.595C>A MANE Plus Clinical	ENSP00000380870.1:p.Gln199Lys
ENST00000300527.9:c.595C>A MANE Select	ENSP00000300527.4:p.Gln199Lys
ENST00000409416.6:c.595C>A	ENSP00000387115.1:p.Gln199Lys
ENST00000300527.8:c.595C>A	ENSP00000300527.4:p.Gln199Lys
ENST00000310645.9:c.595C>A	ENSP00000312529.5:p.Gln199Lys
ENST00000397763.5:c.595C>A	ENSP00000380870.1:p.Gln199Lys
ENST00000409416.5:c.595C>A	ENSP00000387115.1:p.Gln199Lys
ENST00000460886.1:n.41C>A
NM_001849.3:c.595C>A , LRG_476t1:c.595C>A	NP_001840.3:p.Gln199Lys
NM_058174.2:c.595C>A	NP_478054.2:p.Gln199Lys
NM_058175.2:c.595C>A	NP_478055.2:p.Gln199Lys
XM_011529451.1:c.595C>A	XP_011527753.1:p.Gln199Lys
XM_011529452.1:c.595C>A	XP_011527754.1:p.Gln199Lys
XR_937438.1:n.718C>A
XR_937439.1:n.718C>A
XR_937438.2:n.725C>A
XR_937439.2:n.725C>A
NM_001849.4:c.595C>A MANE Select	NP_001840.3:p.Gln199Lys
NM_058174.3:c.595C>A MANE Plus Clinical	NP_478054.2:p.Gln199Lys
NM_058175.3:c.595C>A	NP_478055.2:p.Gln199Lys