Canonical Allele Identifier: CA147511

Gene: COL6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46112622C>T , CM000683.2:g.46112622C>T	GRCh38
NC_000021.8:g.47532536C>T , CM000683.1:g.47532536C>T	GRCh37
NC_000021.7:g.46356964C>T	NCBI36
NG_008675.1:g.19504C>T , LRG_476:g.19504C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001849.4:c.714+45C>T MANE Select	NP_001840.3:n.714+45C>T
ENST00000300527.9:c.714+45C>T MANE Select	ENSP00000300527.4:n.714+45C>T
NM_058174.3:c.714+45C>T MANE Plus Clinical	NP_478054.2:n.714+45C>T
ENST00000397763.6:c.714+45C>T MANE Plus Clinical	ENSP00000380870.1:n.714+45C>T
NM_001849.3:c.714+45C>T , LRG_476t1:c.714+45C>T	NP_001840.3:n.714+45C>T
NM_058174.2:c.714+45C>T	NP_478054.2:n.714+45C>T
NM_058175.2:c.714+45C>T	NP_478055.2:n.714+45C>T
NM_058175.3:c.714+45C>T	NP_478055.2:n.714+45C>T
ENST00000300527.8:c.714+45C>T	ENSP00000300527.4:n.714+45C>T
ENST00000310645.9:c.714+45C>T	ENSP00000312529.5:n.714+45C>T
ENST00000397763.5:c.714+45C>T	ENSP00000380870.1:n.714+45C>T
ENST00000409416.5:c.714+45C>T	ENSP00000387115.1:n.714+45C>T
ENST00000409416.6:c.714+45C>T	ENSP00000387115.1:n.714+45C>T
ENST00000460886.1:n.160+45C>T
XM_011529451.1:c.714+45C>T	XP_011527753.1:n.714+45C>T
XM_011529452.1:c.714+45C>T	XP_011527754.1:n.714+45C>T
XR_937438.1:n.837+45C>T
XR_937438.2:n.844+45C>T
XR_937439.1:n.837+45C>T
XR_937439.2:n.844+45C>T