Canonical Allele Identifier: CA351191203

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237336237-G-C
• MyVariant Identifiers: chr2:g.238244880G>C (hg19) ; chr2:g.237336237G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336237G>C , CM000664.2:g.237336237G>C	GRCh38
NC_000002.11:g.238244880G>C , CM000664.1:g.238244880G>C	GRCh37
NC_000002.10:g.237909619G>C	NCBI36
NG_008676.1:g.82971C>G , LRG_473:g.82971C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1508C>G
ENST00000353578.9:c.8245C>G	ENSP00000315873.4:p.Pro2749Ala
ENST00000682957.1:c.990C>G
ENST00000684508.1:n.1130C>G
ENST00000295550.9:c.8863C>G MANE Select	ENSP00000295550.4:p.Pro2955Ala
ENST00000295550.8:c.8863C>G	ENSP00000295550.4:p.Pro2955Ala
ENST00000347401.7:c.7039C>G	ENSP00000315609.4:p.Pro2347Ala
ENST00000353578.8:c.8245C>G	ENSP00000315873.4:p.Pro2749Ala
ENST00000409809.5:c.8245C>G	ENSP00000386844.1:p.Pro2749Ala
ENST00000472056.5:c.7042C>G	ENSP00000418285.1:p.Pro2348Ala
ENST00000491769.1:n.5305C>G
NM_004369.3:c.8863C>G , LRG_473t1:c.8863C>G	NP_004360.2:p.Pro2955Ala
NM_057166.4:c.7042C>G	NP_476507.3:p.Pro2348Ala
NM_057167.3:c.8245C>G	NP_476508.2:p.Pro2749Ala
XM_005246065.1:c.8263C>G	XP_005246122.1:p.Pro2755Ala
XM_005246066.1:c.7642C>G	XP_005246123.1:p.Pro2548Ala
XM_006712253.1:c.8362C>G	XP_006712316.1:p.Pro2788Ala
XM_011510574.1:c.8860C>G	XP_011508876.1:p.Pro2954Ala
XM_011510575.1:c.6457C>G	XP_011508877.1:p.Pro2153Ala
XM_017003304.1:c.6457C>G	XP_016858793.1:p.Pro2153Ala
XM_024452684.1:c.7642C>G	XP_024308452.1:p.Pro2548Ala
NM_004369.4:c.8863C>G MANE Select	NP_004360.2:p.Pro2955Ala
NM_057166.5:c.7042C>G	NP_476507.3:p.Pro2348Ala
NM_057167.4:c.8245C>G	NP_476508.2:p.Pro2749Ala