Canonical Allele Identifier: CA410523466

Gene: COL6A2

Linked Data

• MyVariant Identifiers: chr21:g.47533946A>T (hg19) ; chr21:g.46114032A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46114032A>T , CM000683.2:g.46114032A>T	GRCh38
NC_000021.8:g.47533946A>T , CM000683.1:g.47533946A>T	GRCh37
NC_000021.7:g.46358374A>T	NCBI36
NG_008675.1:g.20914A>T , LRG_476:g.20914A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.760A>T MANE Plus Clinical	ENSP00000380870.1:p.Ile254Phe
ENST00000300527.9:c.760A>T MANE Select	ENSP00000300527.4:p.Ile254Phe
ENST00000409416.6:c.760A>T	ENSP00000387115.1:p.Ile254Phe
ENST00000300527.8:c.760A>T	ENSP00000300527.4:p.Ile254Phe
ENST00000310645.9:c.760A>T	ENSP00000312529.5:p.Ile254Phe
ENST00000397763.5:c.760A>T	ENSP00000380870.1:p.Ile254Phe
ENST00000409416.5:c.760A>T	ENSP00000387115.1:p.Ile254Phe
ENST00000485591.1:n.416A>T
NM_001849.3:c.760A>T , LRG_476t1:c.760A>T	NP_001840.3:p.Ile254Phe
NM_058174.2:c.760A>T	NP_478054.2:p.Ile254Phe
NM_058175.2:c.760A>T	NP_478055.2:p.Ile254Phe
XM_011529451.1:c.760A>T	XP_011527753.1:p.Ile254Phe
XM_011529452.1:c.760A>T	XP_011527754.1:p.Ile254Phe
XR_937438.1:n.883A>T
XR_937439.1:n.883A>T
XR_937438.2:n.890A>T
XR_937439.2:n.890A>T
NM_001849.4:c.760A>T MANE Select	NP_001840.3:p.Ile254Phe
NM_058174.3:c.760A>T MANE Plus Clinical	NP_478054.2:p.Ile254Phe
NM_058175.3:c.760A>T	NP_478055.2:p.Ile254Phe