Canonical Allele Identifier: CA2187575

Gene: COL6A3

Linked Data

• dbSNP Id: rs750723659
• ExAC: 2:238249236 C / A
• gnomAD v2: 2-238249236-C-A
• gnomAD v4: 2-237340593-C-A
• MyVariant Identifiers: chr2:g.238249236C>A (hg19) ; chr2:g.237340593C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340593C>A , CM000664.2:g.237340593C>A	GRCh38
NC_000002.11:g.238249236C>A , CM000664.1:g.238249236C>A	GRCh37
NC_000002.10:g.237913975C>A	NCBI36
NG_008676.1:g.78615G>T , LRG_473:g.78615G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.968G>T
ENST00000353578.9:c.7705G>T	ENSP00000315873.4:p.Gly2569Cys
ENST00000682957.1:c.326G>T
ENST00000684508.1:n.590G>T
ENST00000295550.9:c.8323G>T MANE Select	ENSP00000295550.4:p.Gly2775Cys
ENST00000295550.8:c.8323G>T	ENSP00000295550.4:p.Gly2775Cys
ENST00000347401.7:c.6499G>T	ENSP00000315609.4:p.Gly2167Cys
ENST00000353578.8:c.7705G>T	ENSP00000315873.4:p.Gly2569Cys
ENST00000409809.5:c.7705G>T	ENSP00000386844.1:p.Gly2569Cys
ENST00000468792.1:n.10G>T
ENST00000472056.5:c.6502G>T	ENSP00000418285.1:p.Gly2168Cys
ENST00000491769.1:n.4765G>T
NM_004369.3:c.8323G>T , LRG_473t1:c.8323G>T	NP_004360.2:p.Gly2775Cys
NM_057166.4:c.6502G>T	NP_476507.3:p.Gly2168Cys
NM_057167.3:c.7705G>T	NP_476508.2:p.Gly2569Cys
XM_005246065.1:c.7723G>T	XP_005246122.1:p.Gly2575Cys
XM_005246066.1:c.7102G>T	XP_005246123.1:p.Gly2368Cys
XM_006712253.1:c.7822G>T	XP_006712316.1:p.Gly2608Cys
XM_011510574.1:c.8320G>T	XP_011508876.1:p.Gly2774Cys
XM_011510575.1:c.5917G>T	XP_011508877.1:p.Gly1973Cys
XM_017003304.1:c.5917G>T	XP_016858793.1:p.Gly1973Cys
XM_024452684.1:c.7102G>T	XP_024308452.1:p.Gly2368Cys
NM_004369.4:c.8323G>T MANE Select	NP_004360.2:p.Gly2775Cys
NM_057166.5:c.6502G>T	NP_476507.3:p.Gly2168Cys
NM_057167.4:c.7705G>T	NP_476508.2:p.Gly2569Cys