Canonical Allele Identifier: CA295335
Gene: COL6A3 HGNC NCBI

Linked Data

dbSNP Id: rs727502840
COSMIC: COSM1614567
MyVariant Identifiers: chr2:g.238269780C>T (hg19) chr2:g.237361137C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237361137C>T , CM000664.2:g.237361137C>T GRCh38
NC_000002.11:g.238269780C>T , CM000664.1:g.238269780C>T GRCh37
NC_000002.10:g.237934519C>T NCBI36
NG_008676.1:g.58071G>A , LRG_473:g.58071G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000353578.9:c.5576G>A ENSP00000315873.4:p.Gly1859Asp
ENST00000295550.9:c.6194G>A MANE Select ENSP00000295550.4:p.Gly2065Asp
ENST00000295550.8:c.6194G>A ENSP00000295550.4:p.Gly2065Asp
ENST00000347401.7:c.4373G>A ENSP00000315609.4:p.Gly1458Asp
ENST00000353578.8:c.5576G>A ENSP00000315873.4:p.Gly1859Asp
ENST00000409809.5:c.5576G>A ENSP00000386844.1:p.Gly1859Asp
ENST00000472056.5:c.4373G>A ENSP00000418285.1:p.Gly1458Asp
NM_004369.3:c.6194G>A , LRG_473t1:c.6194G>A NP_004360.2:p.Gly2065Asp
NM_057166.4:c.4373G>A NP_476507.3:p.Gly1458Asp
NM_057167.3:c.5576G>A NP_476508.2:p.Gly1859Asp
XM_005246065.1:c.5594G>A XP_005246122.1:p.Gly1865Asp
XM_005246066.1:c.4973G>A XP_005246123.1:p.Gly1658Asp
XM_006712253.1:c.5693G>A XP_006712316.1:p.Gly1898Asp
XM_011510574.1:c.6191G>A XP_011508876.1:p.Gly2064Asp
XM_011510575.1:c.3788G>A XP_011508877.1:p.Gly1263Asp
XM_017003304.1:c.3788G>A XP_016858793.1:p.Gly1263Asp
XM_024452684.1:c.4973G>A XP_024308452.1:p.Gly1658Asp
NM_004369.4:c.6194G>A MANE Select NP_004360.2:p.Gly2065Asp
NM_057166.5:c.4373G>A NP_476507.3:p.Gly1458Asp
NM_057167.4:c.5576G>A NP_476508.2:p.Gly1859Asp
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