Canonical Allele Identifier: CA351191777

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238245024G>C (hg19) ; chr2:g.237336381G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336381G>C , CM000664.2:g.237336381G>C	GRCh38
NC_000002.11:g.238245024G>C , CM000664.1:g.238245024G>C	GRCh37
NC_000002.10:g.237909763G>C	NCBI36
NG_008676.1:g.82827C>G , LRG_473:g.82827C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1364C>G
ENST00000353578.9:c.8101C>G	ENSP00000315873.4:p.Pro2701Ala
ENST00000682957.1:c.846C>G
ENST00000684508.1:n.986C>G
ENST00000295550.9:c.8719C>G MANE Select	ENSP00000295550.4:p.Pro2907Ala
ENST00000295550.8:c.8719C>G	ENSP00000295550.4:p.Pro2907Ala
ENST00000347401.7:c.6895C>G	ENSP00000315609.4:p.Pro2299Ala
ENST00000353578.8:c.8101C>G	ENSP00000315873.4:p.Pro2701Ala
ENST00000409809.5:c.8101C>G	ENSP00000386844.1:p.Pro2701Ala
ENST00000472056.5:c.6898C>G	ENSP00000418285.1:p.Pro2300Ala
ENST00000491769.1:n.5161C>G
NM_004369.3:c.8719C>G , LRG_473t1:c.8719C>G	NP_004360.2:p.Pro2907Ala
NM_057166.4:c.6898C>G	NP_476507.3:p.Pro2300Ala
NM_057167.3:c.8101C>G	NP_476508.2:p.Pro2701Ala
XM_005246065.1:c.8119C>G	XP_005246122.1:p.Pro2707Ala
XM_005246066.1:c.7498C>G	XP_005246123.1:p.Pro2500Ala
XM_006712253.1:c.8218C>G	XP_006712316.1:p.Pro2740Ala
XM_011510574.1:c.8716C>G	XP_011508876.1:p.Pro2906Ala
XM_011510575.1:c.6313C>G	XP_011508877.1:p.Pro2105Ala
XM_017003304.1:c.6313C>G	XP_016858793.1:p.Pro2105Ala
XM_024452684.1:c.7498C>G	XP_024308452.1:p.Pro2500Ala
NM_004369.4:c.8719C>G MANE Select	NP_004360.2:p.Pro2907Ala
NM_057166.5:c.6898C>G	NP_476507.3:p.Pro2300Ala
NM_057167.4:c.8101C>G	NP_476508.2:p.Pro2701Ala