Canonical Allele Identifier: CA351191770

Gene: COL6A3

Linked Data

• dbSNP Id: rs1273582150
• gnomAD v2: 2-238245020-G-T
• gnomAD v4: 2-237336377-G-T
• MyVariant Identifiers: chr2:g.238245020G>T (hg19) ; chr2:g.237336377G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336377G>T , CM000664.2:g.237336377G>T	GRCh38
NC_000002.11:g.238245020G>T , CM000664.1:g.238245020G>T	GRCh37
NC_000002.10:g.237909759G>T	NCBI36
NG_008676.1:g.82831C>A , LRG_473:g.82831C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1368C>A
ENST00000353578.9:c.8105C>A	ENSP00000315873.4:p.Ala2702Asp
ENST00000682957.1:c.850C>A
ENST00000684508.1:n.990C>A
ENST00000295550.9:c.8723C>A MANE Select	ENSP00000295550.4:p.Ala2908Asp
ENST00000295550.8:c.8723C>A	ENSP00000295550.4:p.Ala2908Asp
ENST00000347401.7:c.6899C>A	ENSP00000315609.4:p.Ala2300Asp
ENST00000353578.8:c.8105C>A	ENSP00000315873.4:p.Ala2702Asp
ENST00000409809.5:c.8105C>A	ENSP00000386844.1:p.Ala2702Asp
ENST00000472056.5:c.6902C>A	ENSP00000418285.1:p.Ala2301Asp
ENST00000491769.1:n.5165C>A
NM_004369.3:c.8723C>A , LRG_473t1:c.8723C>A	NP_004360.2:p.Ala2908Asp
NM_057166.4:c.6902C>A	NP_476507.3:p.Ala2301Asp
NM_057167.3:c.8105C>A	NP_476508.2:p.Ala2702Asp
XM_005246065.1:c.8123C>A	XP_005246122.1:p.Ala2708Asp
XM_005246066.1:c.7502C>A	XP_005246123.1:p.Ala2501Asp
XM_006712253.1:c.8222C>A	XP_006712316.1:p.Ala2741Asp
XM_011510574.1:c.8720C>A	XP_011508876.1:p.Ala2907Asp
XM_011510575.1:c.6317C>A	XP_011508877.1:p.Ala2106Asp
XM_017003304.1:c.6317C>A	XP_016858793.1:p.Ala2106Asp
XM_024452684.1:c.7502C>A	XP_024308452.1:p.Ala2501Asp
NM_004369.4:c.8723C>A MANE Select	NP_004360.2:p.Ala2908Asp
NM_057166.5:c.6902C>A	NP_476507.3:p.Ala2301Asp
NM_057167.4:c.8105C>A	NP_476508.2:p.Ala2702Asp