Canonical Allele Identifier: CA351195072

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238249206T>A (hg19) ; chr2:g.237340563T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340563T>A , CM000664.2:g.237340563T>A	GRCh38
NC_000002.11:g.238249206T>A , CM000664.1:g.238249206T>A	GRCh37
NC_000002.10:g.237913945T>A	NCBI36
NG_008676.1:g.78645A>T , LRG_473:g.78645A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.998A>T
ENST00000353578.9:c.7735A>T	ENSP00000315873.4:p.Thr2579Ser
ENST00000682957.1:c.356A>T
ENST00000684508.1:n.620A>T
ENST00000295550.9:c.8353A>T MANE Select	ENSP00000295550.4:p.Thr2785Ser
ENST00000295550.8:c.8353A>T	ENSP00000295550.4:p.Thr2785Ser
ENST00000347401.7:c.6529A>T	ENSP00000315609.4:p.Thr2177Ser
ENST00000353578.8:c.7735A>T	ENSP00000315873.4:p.Thr2579Ser
ENST00000409809.5:c.7735A>T	ENSP00000386844.1:p.Thr2579Ser
ENST00000468792.1:n.40A>T
ENST00000472056.5:c.6532A>T	ENSP00000418285.1:p.Thr2178Ser
ENST00000491769.1:n.4795A>T
NM_004369.3:c.8353A>T , LRG_473t1:c.8353A>T	NP_004360.2:p.Thr2785Ser
NM_057166.4:c.6532A>T	NP_476507.3:p.Thr2178Ser
NM_057167.3:c.7735A>T	NP_476508.2:p.Thr2579Ser
XM_005246065.1:c.7753A>T	XP_005246122.1:p.Thr2585Ser
XM_005246066.1:c.7132A>T	XP_005246123.1:p.Thr2378Ser
XM_006712253.1:c.7852A>T	XP_006712316.1:p.Thr2618Ser
XM_011510574.1:c.8350A>T	XP_011508876.1:p.Thr2784Ser
XM_011510575.1:c.5947A>T	XP_011508877.1:p.Thr1983Ser
XM_017003304.1:c.5947A>T	XP_016858793.1:p.Thr1983Ser
XM_024452684.1:c.7132A>T	XP_024308452.1:p.Thr2378Ser
NM_004369.4:c.8353A>T MANE Select	NP_004360.2:p.Thr2785Ser
NM_057166.5:c.6532A>T	NP_476507.3:p.Thr2178Ser
NM_057167.4:c.7735A>T	NP_476508.2:p.Thr2579Ser