Canonical Allele Identifier: CA351195722

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238249298T>A (hg19) ; chr2:g.237340655T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340655T>A , CM000664.2:g.237340655T>A	GRCh38
NC_000002.11:g.238249298T>A , CM000664.1:g.238249298T>A	GRCh37
NC_000002.10:g.237914037T>A	NCBI36
NG_008676.1:g.78553A>T , LRG_473:g.78553A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.906A>T
ENST00000353578.9:c.7643A>T	ENSP00000315873.4:p.Glu2548Val
ENST00000682957.1:c.264A>T
ENST00000684508.1:n.528A>T
ENST00000295550.9:c.8261A>T MANE Select	ENSP00000295550.4:p.Glu2754Val
ENST00000295550.8:c.8261A>T	ENSP00000295550.4:p.Glu2754Val
ENST00000347401.7:c.6437A>T	ENSP00000315609.4:p.Glu2146Val
ENST00000353578.8:c.7643A>T	ENSP00000315873.4:p.Glu2548Val
ENST00000409809.5:c.7643A>T	ENSP00000386844.1:p.Glu2548Val
ENST00000472056.5:c.6440A>T	ENSP00000418285.1:p.Glu2147Val
ENST00000491769.1:n.4703A>T
NM_004369.3:c.8261A>T , LRG_473t1:c.8261A>T	NP_004360.2:p.Glu2754Val
NM_057166.4:c.6440A>T	NP_476507.3:p.Glu2147Val
NM_057167.3:c.7643A>T	NP_476508.2:p.Glu2548Val
XM_005246065.1:c.7661A>T	XP_005246122.1:p.Glu2554Val
XM_005246066.1:c.7040A>T	XP_005246123.1:p.Glu2347Val
XM_006712253.1:c.7760A>T	XP_006712316.1:p.Glu2587Val
XM_011510574.1:c.8258A>T	XP_011508876.1:p.Glu2753Val
XM_011510575.1:c.5855A>T	XP_011508877.1:p.Glu1952Val
XM_017003304.1:c.5855A>T	XP_016858793.1:p.Glu1952Val
XM_024452684.1:c.7040A>T	XP_024308452.1:p.Glu2347Val
NM_004369.4:c.8261A>T MANE Select	NP_004360.2:p.Glu2754Val
NM_057166.5:c.6440A>T	NP_476507.3:p.Glu2147Val
NM_057167.4:c.7643A>T	NP_476508.2:p.Glu2548Val