Canonical Allele Identifier: CA351191961

Gene: COL6A3

Linked Data

• dbSNP Id: rs139883752
• gnomAD v4: 2-237336474-G-T
• MyVariant Identifiers: chr2:g.238245117G>T (hg19) ; chr2:g.237336474G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336474G>T , CM000664.2:g.237336474G>T	GRCh38
NC_000002.11:g.238245117G>T , CM000664.1:g.238245117G>T	GRCh37
NC_000002.10:g.237909856G>T	NCBI36
NG_008676.1:g.82734C>A , LRG_473:g.82734C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1271C>A
ENST00000353578.9:c.8008C>A	ENSP00000315873.4:p.Pro2670Thr
ENST00000682957.1:c.753C>A
ENST00000684508.1:n.893C>A
ENST00000295550.9:c.8626C>A MANE Select	ENSP00000295550.4:p.Pro2876Thr
ENST00000295550.8:c.8626C>A	ENSP00000295550.4:p.Pro2876Thr
ENST00000347401.7:c.6802C>A	ENSP00000315609.4:p.Pro2268Thr
ENST00000353578.8:c.8008C>A	ENSP00000315873.4:p.Pro2670Thr
ENST00000409809.5:c.8008C>A	ENSP00000386844.1:p.Pro2670Thr
ENST00000472056.5:c.6805C>A	ENSP00000418285.1:p.Pro2269Thr
ENST00000491769.1:n.5068C>A
NM_004369.3:c.8626C>A , LRG_473t1:c.8626C>A	NP_004360.2:p.Pro2876Thr
NM_057166.4:c.6805C>A	NP_476507.3:p.Pro2269Thr
NM_057167.3:c.8008C>A	NP_476508.2:p.Pro2670Thr
XM_005246065.1:c.8026C>A	XP_005246122.1:p.Pro2676Thr
XM_005246066.1:c.7405C>A	XP_005246123.1:p.Pro2469Thr
XM_006712253.1:c.8125C>A	XP_006712316.1:p.Pro2709Thr
XM_011510574.1:c.8623C>A	XP_011508876.1:p.Pro2875Thr
XM_011510575.1:c.6220C>A	XP_011508877.1:p.Pro2074Thr
XM_017003304.1:c.6220C>A	XP_016858793.1:p.Pro2074Thr
XM_024452684.1:c.7405C>A	XP_024308452.1:p.Pro2469Thr
NM_004369.4:c.8626C>A MANE Select	NP_004360.2:p.Pro2876Thr
NM_057166.5:c.6805C>A	NP_476507.3:p.Pro2269Thr
NM_057167.4:c.8008C>A	NP_476508.2:p.Pro2670Thr