Canonical Allele Identifier: CA351191666

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237336339-T-C
• MyVariant Identifiers: chr2:g.238244982T>C (hg19) ; chr2:g.237336339T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336339T>C , CM000664.2:g.237336339T>C	GRCh38
NC_000002.11:g.238244982T>C , CM000664.1:g.238244982T>C	GRCh37
NC_000002.10:g.237909721T>C	NCBI36
NG_008676.1:g.82869A>G , LRG_473:g.82869A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1406A>G
ENST00000353578.9:c.8143A>G	ENSP00000315873.4:p.Lys2715Glu
ENST00000682957.1:c.888A>G
ENST00000684508.1:n.1028A>G
ENST00000295550.9:c.8761A>G MANE Select	ENSP00000295550.4:p.Lys2921Glu
ENST00000295550.8:c.8761A>G	ENSP00000295550.4:p.Lys2921Glu
ENST00000347401.7:c.6937A>G	ENSP00000315609.4:p.Lys2313Glu
ENST00000353578.8:c.8143A>G	ENSP00000315873.4:p.Lys2715Glu
ENST00000409809.5:c.8143A>G	ENSP00000386844.1:p.Lys2715Glu
ENST00000472056.5:c.6940A>G	ENSP00000418285.1:p.Lys2314Glu
ENST00000491769.1:n.5203A>G
NM_004369.3:c.8761A>G , LRG_473t1:c.8761A>G	NP_004360.2:p.Lys2921Glu
NM_057166.4:c.6940A>G	NP_476507.3:p.Lys2314Glu
NM_057167.3:c.8143A>G	NP_476508.2:p.Lys2715Glu
XM_005246065.1:c.8161A>G	XP_005246122.1:p.Lys2721Glu
XM_005246066.1:c.7540A>G	XP_005246123.1:p.Lys2514Glu
XM_006712253.1:c.8260A>G	XP_006712316.1:p.Lys2754Glu
XM_011510574.1:c.8758A>G	XP_011508876.1:p.Lys2920Glu
XM_011510575.1:c.6355A>G	XP_011508877.1:p.Lys2119Glu
XM_017003304.1:c.6355A>G	XP_016858793.1:p.Lys2119Glu
XM_024452684.1:c.7540A>G	XP_024308452.1:p.Lys2514Glu
NM_004369.4:c.8761A>G MANE Select	NP_004360.2:p.Lys2921Glu
NM_057166.5:c.6940A>G	NP_476507.3:p.Lys2314Glu
NM_057167.4:c.8143A>G	NP_476508.2:p.Lys2715Glu