Canonical Allele Identifier: CA431678360

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237359380-C-G
• MyVariant Identifiers: chr2:g.238268023C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237359380C>G , CM000664.2:g.237359380C>G	GRCh38
NC_000002.11:g.238268023C>G , CM000664.1:g.238268023C>G	GRCh37
NC_000002.10:g.237932762C>G	NCBI36
NG_008676.1:g.59828G>C , LRG_473:g.59828G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000353578.9:c.5673G>C	ENSP00000315873.4:p.Arg1891=
ENST00000295550.9:c.6291G>C MANE Select	ENSP00000295550.4:p.Arg2097=
ENST00000295550.8:c.6291G>C	ENSP00000295550.4:p.Arg2097=
ENST00000347401.7:c.4470G>C	ENSP00000315609.4:p.Arg1490=
ENST00000353578.8:c.5673G>C	ENSP00000315873.4:p.Arg1891=
ENST00000409809.5:c.5673G>C	ENSP00000386844.1:p.Arg1891=
ENST00000472056.5:c.4470G>C	ENSP00000418285.1:p.Arg1490=
NM_004369.3:c.6291G>C , LRG_473t1:c.6291G>C	NP_004360.2:p.Arg2097=
NM_057166.4:c.4470G>C	NP_476507.3:p.Arg1490=
NM_057167.3:c.5673G>C	NP_476508.2:p.Arg1891=
XM_005246065.1:c.5691G>C	XP_005246122.1:p.Arg1897=
XM_005246066.1:c.5070G>C	XP_005246123.1:p.Arg1690=
XM_006712253.1:c.5790G>C	XP_006712316.1:p.Arg1930=
XM_011510574.1:c.6288G>C	XP_011508876.1:p.Arg2096=
XM_011510575.1:c.3885G>C	XP_011508877.1:p.Arg1295=
XM_017003304.1:c.3885G>C	XP_016858793.1:p.Arg1295=
XM_024452684.1:c.5070G>C	XP_024308452.1:p.Arg1690=
NM_004369.4:c.6291G>C MANE Select	NP_004360.2:p.Arg2097=
NM_057166.5:c.4470G>C	NP_476507.3:p.Arg1490=
NM_057167.4:c.5673G>C	NP_476508.2:p.Arg1891=