Canonical Allele Identifier: CA351189703

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237334889-A-G
• MyVariant Identifiers: chr2:g.238243532A>G (hg19) ; chr2:g.237334889A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334889A>G , CM000664.2:g.237334889A>G	GRCh38
NC_000002.11:g.238243532A>G , CM000664.1:g.238243532A>G	GRCh37
NC_000002.10:g.237908271A>G	NCBI36
NG_008676.1:g.84319T>C , LRG_473:g.84319T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.1610+1246T>C
ENST00000353578.9:c.8348T>C	ENSP00000315873.4:p.Val2783Ala
ENST00000682957.1:c.1093T>C
ENST00000295550.9:c.8966T>C MANE Select	ENSP00000295550.4:p.Val2989Ala
ENST00000295550.8:c.8966T>C	ENSP00000295550.4:p.Val2989Ala
ENST00000347401.7:c.7142T>C	ENSP00000315609.4:p.Val2381Ala
ENST00000353578.8:c.8348T>C	ENSP00000315873.4:p.Val2783Ala
ENST00000409809.5:c.8348T>C	ENSP00000386844.1:p.Val2783Ala
ENST00000472056.5:c.7145T>C	ENSP00000418285.1:p.Val2382Ala
ENST00000491769.1:n.5408T>C
NM_004369.3:c.8966T>C , LRG_473t1:c.8966T>C	NP_004360.2:p.Val2989Ala
NM_057166.4:c.7145T>C	NP_476507.3:p.Val2382Ala
NM_057167.3:c.8348T>C	NP_476508.2:p.Val2783Ala
XM_005246065.1:c.8366T>C	XP_005246122.1:p.Val2789Ala
XM_005246066.1:c.7745T>C	XP_005246123.1:p.Val2582Ala
XM_006712253.1:c.8465T>C	XP_006712316.1:p.Val2822Ala
XM_011510574.1:c.8963T>C	XP_011508876.1:p.Val2988Ala
XM_011510575.1:c.6560T>C	XP_011508877.1:p.Val2187Ala
XM_017003304.1:c.6560T>C	XP_016858793.1:p.Val2187Ala
XM_024452684.1:c.7745T>C	XP_024308452.1:p.Val2582Ala
NM_004369.4:c.8966T>C MANE Select	NP_004360.2:p.Val2989Ala
NM_057166.5:c.7145T>C	NP_476507.3:p.Val2382Ala
NM_057167.4:c.8348T>C	NP_476508.2:p.Val2783Ala