Canonical Allele Identifier: CA431698434

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238244809A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336166A>G , CM000664.2:g.237336166A>G	GRCh38
NC_000002.11:g.238244809A>G , CM000664.1:g.238244809A>G	GRCh37
NC_000002.10:g.237909548A>G	NCBI36
NG_008676.1:g.83042T>C , LRG_473:g.83042T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1579T>C
ENST00000353578.9:c.8316T>C	ENSP00000315873.4:p.Ala2772=
ENST00000682957.1:c.1061T>C
ENST00000684508.1:n.1201T>C
ENST00000295550.9:c.8934T>C MANE Select	ENSP00000295550.4:p.Ala2978=
ENST00000295550.8:c.8934T>C	ENSP00000295550.4:p.Ala2978=
ENST00000347401.7:c.7110T>C	ENSP00000315609.4:p.Ala2370=
ENST00000353578.8:c.8316T>C	ENSP00000315873.4:p.Ala2772=
ENST00000409809.5:c.8316T>C	ENSP00000386844.1:p.Ala2772=
ENST00000472056.5:c.7113T>C	ENSP00000418285.1:p.Ala2371=
ENST00000491769.1:n.5376T>C
NM_004369.3:c.8934T>C , LRG_473t1:c.8934T>C	NP_004360.2:p.Ala2978=
NM_057166.4:c.7113T>C	NP_476507.3:p.Ala2371=
NM_057167.3:c.8316T>C	NP_476508.2:p.Ala2772=
XM_005246065.1:c.8334T>C	XP_005246122.1:p.Ala2778=
XM_005246066.1:c.7713T>C	XP_005246123.1:p.Ala2571=
XM_006712253.1:c.8433T>C	XP_006712316.1:p.Ala2811=
XM_011510574.1:c.8931T>C	XP_011508876.1:p.Ala2977=
XM_011510575.1:c.6528T>C	XP_011508877.1:p.Ala2176=
XM_017003304.1:c.6528T>C	XP_016858793.1:p.Ala2176=
XM_024452684.1:c.7713T>C	XP_024308452.1:p.Ala2571=
NM_004369.4:c.8934T>C MANE Select	NP_004360.2:p.Ala2978=
NM_057166.5:c.7113T>C	NP_476507.3:p.Ala2371=
NM_057167.4:c.8316T>C	NP_476508.2:p.Ala2772=