Canonical Allele Identifier: CA351191993

Gene: COL6A3

Linked Data

• dbSNP Id: rs1700558612
• MyVariant Identifiers: chr2:g.238245135G>C (hg19) ; chr2:g.237336492G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336492G>C , CM000664.2:g.237336492G>C	GRCh38
NC_000002.11:g.238245135G>C , CM000664.1:g.238245135G>C	GRCh37
NC_000002.10:g.237909874G>C	NCBI36
NG_008676.1:g.82716C>G , LRG_473:g.82716C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1253C>G
ENST00000353578.9:c.7990C>G	ENSP00000315873.4:p.Pro2664Ala
ENST00000682957.1:c.735C>G
ENST00000684508.1:n.875C>G
ENST00000295550.9:c.8608C>G MANE Select	ENSP00000295550.4:p.Pro2870Ala
ENST00000295550.8:c.8608C>G	ENSP00000295550.4:p.Pro2870Ala
ENST00000347401.7:c.6784C>G	ENSP00000315609.4:p.Pro2262Ala
ENST00000353578.8:c.7990C>G	ENSP00000315873.4:p.Pro2664Ala
ENST00000409809.5:c.7990C>G	ENSP00000386844.1:p.Pro2664Ala
ENST00000472056.5:c.6787C>G	ENSP00000418285.1:p.Pro2263Ala
ENST00000491769.1:n.5050C>G
NM_004369.3:c.8608C>G , LRG_473t1:c.8608C>G	NP_004360.2:p.Pro2870Ala
NM_057166.4:c.6787C>G	NP_476507.3:p.Pro2263Ala
NM_057167.3:c.7990C>G	NP_476508.2:p.Pro2664Ala
XM_005246065.1:c.8008C>G	XP_005246122.1:p.Pro2670Ala
XM_005246066.1:c.7387C>G	XP_005246123.1:p.Pro2463Ala
XM_006712253.1:c.8107C>G	XP_006712316.1:p.Pro2703Ala
XM_011510574.1:c.8605C>G	XP_011508876.1:p.Pro2869Ala
XM_011510575.1:c.6202C>G	XP_011508877.1:p.Pro2068Ala
XM_017003304.1:c.6202C>G	XP_016858793.1:p.Pro2068Ala
XM_024452684.1:c.7387C>G	XP_024308452.1:p.Pro2463Ala
NM_004369.4:c.8608C>G MANE Select	NP_004360.2:p.Pro2870Ala
NM_057166.5:c.6787C>G	NP_476507.3:p.Pro2263Ala
NM_057167.4:c.7990C>G	NP_476508.2:p.Pro2664Ala