Canonical Allele Identifier: CA351192051

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237336519-T-C
• MyVariant Identifiers: chr2:g.238245162T>C (hg19) ; chr2:g.237336519T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336519T>C , CM000664.2:g.237336519T>C	GRCh38
NC_000002.11:g.238245162T>C , CM000664.1:g.238245162T>C	GRCh37
NC_000002.10:g.237909901T>C	NCBI36
NG_008676.1:g.82689A>G , LRG_473:g.82689A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1226A>G
ENST00000353578.9:c.7963A>G	ENSP00000315873.4:p.Asn2655Asp
ENST00000682957.1:c.708A>G
ENST00000684508.1:n.848A>G
ENST00000295550.9:c.8581A>G MANE Select	ENSP00000295550.4:p.Asn2861Asp
ENST00000295550.8:c.8581A>G	ENSP00000295550.4:p.Asn2861Asp
ENST00000347401.7:c.6757A>G	ENSP00000315609.4:p.Asn2253Asp
ENST00000353578.8:c.7963A>G	ENSP00000315873.4:p.Asn2655Asp
ENST00000409809.5:c.7963A>G	ENSP00000386844.1:p.Asn2655Asp
ENST00000472056.5:c.6760A>G	ENSP00000418285.1:p.Asn2254Asp
ENST00000491769.1:n.5023A>G
NM_004369.3:c.8581A>G , LRG_473t1:c.8581A>G	NP_004360.2:p.Asn2861Asp
NM_057166.4:c.6760A>G	NP_476507.3:p.Asn2254Asp
NM_057167.3:c.7963A>G	NP_476508.2:p.Asn2655Asp
XM_005246065.1:c.7981A>G	XP_005246122.1:p.Asn2661Asp
XM_005246066.1:c.7360A>G	XP_005246123.1:p.Asn2454Asp
XM_006712253.1:c.8080A>G	XP_006712316.1:p.Asn2694Asp
XM_011510574.1:c.8578A>G	XP_011508876.1:p.Asn2860Asp
XM_011510575.1:c.6175A>G	XP_011508877.1:p.Asn2059Asp
XM_017003304.1:c.6175A>G	XP_016858793.1:p.Asn2059Asp
XM_024452684.1:c.7360A>G	XP_024308452.1:p.Asn2454Asp
NM_004369.4:c.8581A>G MANE Select	NP_004360.2:p.Asn2861Asp
NM_057166.5:c.6760A>G	NP_476507.3:p.Asn2254Asp
NM_057167.4:c.7963A>G	NP_476508.2:p.Asn2655Asp