Canonical Allele Identifier: CA431710520

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 502546
• ClinVar RCV Id: RCV000595796 ; RCV000653658
• dbSNP Id: rs1439207088
• gnomAD v2: 2-238253215-G-C
• gnomAD v4: 2-237344572-G-C
• MyVariant Identifiers: chr2:g.238253215G>C (hg19) ; chr2:g.237344572G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344572G>C , CM000664.2:g.237344572G>C	GRCh38
NC_000002.11:g.238253215G>C , CM000664.1:g.238253215G>C	GRCh37
NC_000002.10:g.237917954G>C	NCBI36
NG_008676.1:g.74636C>G , LRG_473:g.74636C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.91C>G
ENST00000353578.9:c.6828C>G	ENSP00000315873.4:p.Ser2276=
ENST00000295550.9:c.7446C>G MANE Select	ENSP00000295550.4:p.Ser2482=
ENST00000295550.8:c.7446C>G	ENSP00000295550.4:p.Ser2482=
ENST00000347401.7:c.5622C>G	ENSP00000315609.4:p.Ser1874=
ENST00000353578.8:c.6828C>G	ENSP00000315873.4:p.Ser2276=
ENST00000409809.5:c.6828C>G	ENSP00000386844.1:p.Ser2276=
ENST00000472056.5:c.5625C>G	ENSP00000418285.1:p.Ser1875=
ENST00000491769.1:n.1700C>G
NM_004369.3:c.7446C>G , LRG_473t1:c.7446C>G	NP_004360.2:p.Ser2482=
NM_057166.4:c.5625C>G	NP_476507.3:p.Ser1875=
NM_057167.3:c.6828C>G	NP_476508.2:p.Ser2276=
XM_005246065.1:c.6846C>G	XP_005246122.1:p.Ser2282=
XM_005246066.1:c.6225C>G	XP_005246123.1:p.Ser2075=
XM_006712253.1:c.6945C>G	XP_006712316.1:p.Ser2315=
XM_011510574.1:c.7443C>G	XP_011508876.1:p.Ser2481=
XM_011510575.1:c.5040C>G	XP_011508877.1:p.Ser1680=
XM_017003304.1:c.5040C>G	XP_016858793.1:p.Ser1680=
XM_024452684.1:c.6225C>G	XP_024308452.1:p.Ser2075=
NM_004369.4:c.7446C>G MANE Select	NP_004360.2:p.Ser2482=
NM_057166.5:c.5625C>G	NP_476507.3:p.Ser1875=
NM_057167.4:c.6828C>G	NP_476508.2:p.Ser2276=