Canonical Allele Identifier: CA351192003

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237336495-T-C
• MyVariant Identifiers: chr2:g.238245138T>C (hg19) ; chr2:g.237336495T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336495T>C , CM000664.2:g.237336495T>C	GRCh38
NC_000002.11:g.238245138T>C , CM000664.1:g.238245138T>C	GRCh37
NC_000002.10:g.237909877T>C	NCBI36
NG_008676.1:g.82713A>G , LRG_473:g.82713A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1250A>G
ENST00000353578.9:c.7987A>G	ENSP00000315873.4:p.Asn2663Asp
ENST00000682957.1:c.732A>G
ENST00000684508.1:n.872A>G
ENST00000295550.9:c.8605A>G MANE Select	ENSP00000295550.4:p.Asn2869Asp
ENST00000295550.8:c.8605A>G	ENSP00000295550.4:p.Asn2869Asp
ENST00000347401.7:c.6781A>G	ENSP00000315609.4:p.Asn2261Asp
ENST00000353578.8:c.7987A>G	ENSP00000315873.4:p.Asn2663Asp
ENST00000409809.5:c.7987A>G	ENSP00000386844.1:p.Asn2663Asp
ENST00000472056.5:c.6784A>G	ENSP00000418285.1:p.Asn2262Asp
ENST00000491769.1:n.5047A>G
NM_004369.3:c.8605A>G , LRG_473t1:c.8605A>G	NP_004360.2:p.Asn2869Asp
NM_057166.4:c.6784A>G	NP_476507.3:p.Asn2262Asp
NM_057167.3:c.7987A>G	NP_476508.2:p.Asn2663Asp
XM_005246065.1:c.8005A>G	XP_005246122.1:p.Asn2669Asp
XM_005246066.1:c.7384A>G	XP_005246123.1:p.Asn2462Asp
XM_006712253.1:c.8104A>G	XP_006712316.1:p.Asn2702Asp
XM_011510574.1:c.8602A>G	XP_011508876.1:p.Asn2868Asp
XM_011510575.1:c.6199A>G	XP_011508877.1:p.Asn2067Asp
XM_017003304.1:c.6199A>G	XP_016858793.1:p.Asn2067Asp
XM_024452684.1:c.7384A>G	XP_024308452.1:p.Asn2462Asp
NM_004369.4:c.8605A>G MANE Select	NP_004360.2:p.Asn2869Asp
NM_057166.5:c.6784A>G	NP_476507.3:p.Asn2262Asp
NM_057167.4:c.7987A>G	NP_476508.2:p.Asn2663Asp