Canonical Allele Identifier: CA10604703

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 284144
• ClinVar RCV Id: RCV000339682
• dbSNP Id: rs886042804
• MyVariant Identifiers: chr2:g.238243524A>T (hg19) ; chr2:g.237334881A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334881A>T , CM000664.2:g.237334881A>T	GRCh38
NC_000002.11:g.238243524A>T , CM000664.1:g.238243524A>T	GRCh37
NC_000002.10:g.237908263A>T	NCBI36
NG_008676.1:g.84327T>A , LRG_473:g.84327T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.1610+1254T>A
ENST00000353578.9:c.8356T>A	ENSP00000315873.4:p.Ser2786Thr
ENST00000682957.1:c.1101T>A
ENST00000295550.9:c.8974T>A MANE Select	ENSP00000295550.4:p.Ser2992Thr
ENST00000295550.8:c.8974T>A	ENSP00000295550.4:p.Ser2992Thr
ENST00000347401.7:c.7150T>A	ENSP00000315609.4:p.Ser2384Thr
ENST00000353578.8:c.8356T>A	ENSP00000315873.4:p.Ser2786Thr
ENST00000409809.5:c.8356T>A	ENSP00000386844.1:p.Ser2786Thr
ENST00000472056.5:c.7153T>A	ENSP00000418285.1:p.Ser2385Thr
ENST00000491769.1:n.5416T>A
NM_004369.3:c.8974T>A , LRG_473t1:c.8974T>A	NP_004360.2:p.Ser2992Thr
NM_057166.4:c.7153T>A	NP_476507.3:p.Ser2385Thr
NM_057167.3:c.8356T>A	NP_476508.2:p.Ser2786Thr
XM_005246065.1:c.8374T>A	XP_005246122.1:p.Ser2792Thr
XM_005246066.1:c.7753T>A	XP_005246123.1:p.Ser2585Thr
XM_006712253.1:c.8473T>A	XP_006712316.1:p.Ser2825Thr
XM_011510574.1:c.8971T>A	XP_011508876.1:p.Ser2991Thr
XM_011510575.1:c.6568T>A	XP_011508877.1:p.Ser2190Thr
XM_017003304.1:c.6568T>A	XP_016858793.1:p.Ser2190Thr
XM_024452684.1:c.7753T>A	XP_024308452.1:p.Ser2585Thr
NM_004369.4:c.8974T>A MANE Select	NP_004360.2:p.Ser2992Thr
NM_057166.5:c.7153T>A	NP_476507.3:p.Ser2385Thr
NM_057167.4:c.8356T>A	NP_476508.2:p.Ser2786Thr