Canonical Allele Identifier: CA410527339

Gene: COL6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46117421C>A , CM000683.2:g.46117421C>A	GRCh38
NC_000021.8:g.47537335C>A , CM000683.1:g.47537335C>A	GRCh37
NC_000021.7:g.46361763C>A	NCBI36
NG_008675.1:g.24303C>A , LRG_476:g.24303C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001849.4:c.1021C>A MANE Select	NP_001840.3:p.Pro341Thr
ENST00000300527.9:c.1021C>A MANE Select	ENSP00000300527.4:p.Pro341Thr
NM_058174.3:c.1021C>A MANE Plus Clinical	NP_478054.2:p.Pro341Thr
ENST00000397763.6:c.1021C>A MANE Plus Clinical	ENSP00000380870.1:p.Pro341Thr
NM_001849.3:c.1021C>A , LRG_476t1:c.1021C>A	NP_001840.3:p.Pro341Thr
NM_058174.2:c.1021C>A	NP_478054.2:p.Pro341Thr
NM_058175.2:c.1021C>A	NP_478055.2:p.Pro341Thr
NM_058175.3:c.1021C>A	NP_478055.2:p.Pro341Thr
ENST00000300527.8:c.1021C>A	ENSP00000300527.4:p.Pro341Thr
ENST00000310645.9:c.1021C>A	ENSP00000312529.5:p.Pro341Thr
ENST00000397763.5:c.1021C>A	ENSP00000380870.1:p.Pro341Thr
ENST00000409416.5:c.1021C>A	ENSP00000387115.1:p.Pro341Thr
ENST00000409416.6:c.1021C>A	ENSP00000387115.1:p.Pro341Thr
ENST00000485591.1:n.677C>A
XM_011529451.1:c.1021C>A	XP_011527753.1:p.Pro341Thr
XM_011529452.1:c.1021C>A	XP_011527754.1:p.Pro341Thr
XR_937438.1:n.1144C>A
XR_937438.2:n.1151C>A
XR_937439.1:n.1144C>A
XR_937439.2:n.1151C>A