Canonical Allele Identifier: CA351188777

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238243430G>C (hg19) ; chr2:g.237334787G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334787G>C , CM000664.2:g.237334787G>C	GRCh38
NC_000002.11:g.238243430G>C , CM000664.1:g.238243430G>C	GRCh37
NC_000002.10:g.237908169G>C	NCBI36
NG_008676.1:g.84421C>G , LRG_473:g.84421C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.1611-1239C>G
ENST00000353578.9:c.8450C>G	ENSP00000315873.4:p.Thr2817Ser
ENST00000682957.1:c.1195C>G
ENST00000295550.9:c.9068C>G MANE Select	ENSP00000295550.4:p.Thr3023Ser
ENST00000295550.8:c.9068C>G	ENSP00000295550.4:p.Thr3023Ser
ENST00000347401.7:c.7244C>G	ENSP00000315609.4:p.Thr2415Ser
ENST00000353578.8:c.8450C>G	ENSP00000315873.4:p.Thr2817Ser
ENST00000409809.5:c.8450C>G	ENSP00000386844.1:p.Thr2817Ser
ENST00000472056.5:c.7247C>G	ENSP00000418285.1:p.Thr2416Ser
ENST00000491769.1:n.5510C>G
NM_004369.3:c.9068C>G , LRG_473t1:c.9068C>G	NP_004360.2:p.Thr3023Ser
NM_057166.4:c.7247C>G	NP_476507.3:p.Thr2416Ser
NM_057167.3:c.8450C>G	NP_476508.2:p.Thr2817Ser
XM_005246065.1:c.8468C>G	XP_005246122.1:p.Thr2823Ser
XM_005246066.1:c.7847C>G	XP_005246123.1:p.Thr2616Ser
XM_006712253.1:c.8567C>G	XP_006712316.1:p.Thr2856Ser
XM_011510574.1:c.9065C>G	XP_011508876.1:p.Thr3022Ser
XM_011510575.1:c.6662C>G	XP_011508877.1:p.Thr2221Ser
XM_017003304.1:c.6662C>G	XP_016858793.1:p.Thr2221Ser
XM_024452684.1:c.7847C>G	XP_024308452.1:p.Thr2616Ser
NM_004369.4:c.9068C>G MANE Select	NP_004360.2:p.Thr3023Ser
NM_057166.5:c.7247C>G	NP_476507.3:p.Thr2416Ser
NM_057167.4:c.8450C>G	NP_476508.2:p.Thr2817Ser