Canonical Allele Identifier: CA2187465

Gene: COL6A3

Linked Data

• dbSNP Id: rs774152129
• ExAC: 2:238245055 A / G
• gnomAD v2: 2-238245055-A-G
• gnomAD v4: 2-237336412-A-G
• MyVariant Identifiers: chr2:g.238245055A>G (hg19) ; chr2:g.237336412A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336412A>G , CM000664.2:g.237336412A>G	GRCh38
NC_000002.11:g.238245055A>G , CM000664.1:g.238245055A>G	GRCh37
NC_000002.10:g.237909794A>G	NCBI36
NG_008676.1:g.82796T>C , LRG_473:g.82796T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1333T>C
ENST00000353578.9:c.8070T>C	ENSP00000315873.4:p.Pro2690=
ENST00000682957.1:c.815T>C
ENST00000684508.1:n.955T>C
ENST00000295550.9:c.8688T>C MANE Select	ENSP00000295550.4:p.Pro2896=
ENST00000295550.8:c.8688T>C	ENSP00000295550.4:p.Pro2896=
ENST00000347401.7:c.6864T>C	ENSP00000315609.4:p.Pro2288=
ENST00000353578.8:c.8070T>C	ENSP00000315873.4:p.Pro2690=
ENST00000409809.5:c.8070T>C	ENSP00000386844.1:p.Pro2690=
ENST00000472056.5:c.6867T>C	ENSP00000418285.1:p.Pro2289=
ENST00000491769.1:n.5130T>C
NM_004369.3:c.8688T>C , LRG_473t1:c.8688T>C	NP_004360.2:p.Pro2896=
NM_057166.4:c.6867T>C	NP_476507.3:p.Pro2289=
NM_057167.3:c.8070T>C	NP_476508.2:p.Pro2690=
XM_005246065.1:c.8088T>C	XP_005246122.1:p.Pro2696=
XM_005246066.1:c.7467T>C	XP_005246123.1:p.Pro2489=
XM_006712253.1:c.8187T>C	XP_006712316.1:p.Pro2729=
XM_011510574.1:c.8685T>C	XP_011508876.1:p.Pro2895=
XM_011510575.1:c.6282T>C	XP_011508877.1:p.Pro2094=
XM_017003304.1:c.6282T>C	XP_016858793.1:p.Pro2094=
XM_024452684.1:c.7467T>C	XP_024308452.1:p.Pro2489=
NM_004369.4:c.8688T>C MANE Select	NP_004360.2:p.Pro2896=
NM_057166.5:c.6867T>C	NP_476507.3:p.Pro2289=
NM_057167.4:c.8070T>C	NP_476508.2:p.Pro2690=