Canonical Allele Identifier: CA351192053

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238245163A>C (hg19) ; chr2:g.237336520A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336520A>C , CM000664.2:g.237336520A>C	GRCh38
NC_000002.11:g.238245163A>C , CM000664.1:g.238245163A>C	GRCh37
NC_000002.10:g.237909902A>C	NCBI36
NG_008676.1:g.82688T>G , LRG_473:g.82688T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1225T>G
ENST00000353578.9:c.7962T>G	ENSP00000315873.4:p.Asn2654Lys
ENST00000682957.1:c.707T>G
ENST00000684508.1:n.847T>G
ENST00000295550.9:c.8580T>G MANE Select	ENSP00000295550.4:p.Asn2860Lys
ENST00000295550.8:c.8580T>G	ENSP00000295550.4:p.Asn2860Lys
ENST00000347401.7:c.6756T>G	ENSP00000315609.4:p.Asn2252Lys
ENST00000353578.8:c.7962T>G	ENSP00000315873.4:p.Asn2654Lys
ENST00000409809.5:c.7962T>G	ENSP00000386844.1:p.Asn2654Lys
ENST00000472056.5:c.6759T>G	ENSP00000418285.1:p.Asn2253Lys
ENST00000491769.1:n.5022T>G
NM_004369.3:c.8580T>G , LRG_473t1:c.8580T>G	NP_004360.2:p.Asn2860Lys
NM_057166.4:c.6759T>G	NP_476507.3:p.Asn2253Lys
NM_057167.3:c.7962T>G	NP_476508.2:p.Asn2654Lys
XM_005246065.1:c.7980T>G	XP_005246122.1:p.Asn2660Lys
XM_005246066.1:c.7359T>G	XP_005246123.1:p.Asn2453Lys
XM_006712253.1:c.8079T>G	XP_006712316.1:p.Asn2693Lys
XM_011510574.1:c.8577T>G	XP_011508876.1:p.Asn2859Lys
XM_011510575.1:c.6174T>G	XP_011508877.1:p.Asn2058Lys
XM_017003304.1:c.6174T>G	XP_016858793.1:p.Asn2058Lys
XM_024452684.1:c.7359T>G	XP_024308452.1:p.Asn2453Lys
NM_004369.4:c.8580T>G MANE Select	NP_004360.2:p.Asn2860Lys
NM_057166.5:c.6759T>G	NP_476507.3:p.Asn2253Lys
NM_057167.4:c.7962T>G	NP_476508.2:p.Asn2654Lys