Canonical Allele Identifier: CA351202337

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238253126G>T (hg19) ; chr2:g.237344483G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344483G>T , CM000664.2:g.237344483G>T	GRCh38
NC_000002.11:g.238253126G>T , CM000664.1:g.238253126G>T	GRCh37
NC_000002.10:g.237917865G>T	NCBI36
NG_008676.1:g.74725C>A , LRG_473:g.74725C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.180C>A
ENST00000353578.9:c.6917C>A	ENSP00000315873.4:p.Ala2306Asp
ENST00000295550.9:c.7535C>A MANE Select	ENSP00000295550.4:p.Ala2512Asp
ENST00000295550.8:c.7535C>A	ENSP00000295550.4:p.Ala2512Asp
ENST00000347401.7:c.5711C>A	ENSP00000315609.4:p.Ala1904Asp
ENST00000353578.8:c.6917C>A	ENSP00000315873.4:p.Ala2306Asp
ENST00000409809.5:c.6917C>A	ENSP00000386844.1:p.Ala2306Asp
ENST00000472056.5:c.5714C>A	ENSP00000418285.1:p.Ala1905Asp
ENST00000491769.1:n.1789C>A
NM_004369.3:c.7535C>A , LRG_473t1:c.7535C>A	NP_004360.2:p.Ala2512Asp
NM_057166.4:c.5714C>A	NP_476507.3:p.Ala1905Asp
NM_057167.3:c.6917C>A	NP_476508.2:p.Ala2306Asp
XM_005246065.1:c.6935C>A	XP_005246122.1:p.Ala2312Asp
XM_005246066.1:c.6314C>A	XP_005246123.1:p.Ala2105Asp
XM_006712253.1:c.7034C>A	XP_006712316.1:p.Ala2345Asp
XM_011510574.1:c.7532C>A	XP_011508876.1:p.Ala2511Asp
XM_011510575.1:c.5129C>A	XP_011508877.1:p.Ala1710Asp
XM_017003304.1:c.5129C>A	XP_016858793.1:p.Ala1710Asp
XM_024452684.1:c.6314C>A	XP_024308452.1:p.Ala2105Asp
NM_004369.4:c.7535C>A MANE Select	NP_004360.2:p.Ala2512Asp
NM_057166.5:c.5714C>A	NP_476507.3:p.Ala1905Asp
NM_057167.4:c.6917C>A	NP_476508.2:p.Ala2306Asp