Canonical Allele Identifier: CA431698287

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237336139-G-A
• MyVariant Identifiers: chr2:g.238244782G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336139G>A , CM000664.2:g.237336139G>A	GRCh38
NC_000002.11:g.238244782G>A , CM000664.1:g.238244782G>A	GRCh37
NC_000002.10:g.237909521G>A	NCBI36
NG_008676.1:g.83069C>T , LRG_473:g.83069C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1606C>T
ENST00000353578.9:c.8343C>T	ENSP00000315873.4:p.Pro2781=
ENST00000682957.1:c.1088C>T
ENST00000684508.1:n.1228C>T
ENST00000295550.9:c.8961C>T MANE Select	ENSP00000295550.4:p.Pro2987=
ENST00000295550.8:c.8961C>T	ENSP00000295550.4:p.Pro2987=
ENST00000347401.7:c.7137C>T	ENSP00000315609.4:p.Pro2379=
ENST00000353578.8:c.8343C>T	ENSP00000315873.4:p.Pro2781=
ENST00000409809.5:c.8343C>T	ENSP00000386844.1:p.Pro2781=
ENST00000472056.5:c.7140C>T	ENSP00000418285.1:p.Pro2380=
ENST00000491769.1:n.5403C>T
NM_004369.3:c.8961C>T , LRG_473t1:c.8961C>T	NP_004360.2:p.Pro2987=
NM_057166.4:c.7140C>T	NP_476507.3:p.Pro2380=
NM_057167.3:c.8343C>T	NP_476508.2:p.Pro2781=
XM_005246065.1:c.8361C>T	XP_005246122.1:p.Pro2787=
XM_005246066.1:c.7740C>T	XP_005246123.1:p.Pro2580=
XM_006712253.1:c.8460C>T	XP_006712316.1:p.Pro2820=
XM_011510574.1:c.8958C>T	XP_011508876.1:p.Pro2986=
XM_011510575.1:c.6555C>T	XP_011508877.1:p.Pro2185=
XM_017003304.1:c.6555C>T	XP_016858793.1:p.Pro2185=
XM_024452684.1:c.7740C>T	XP_024308452.1:p.Pro2580=
NM_004369.4:c.8961C>T MANE Select	NP_004360.2:p.Pro2987=
NM_057166.5:c.7140C>T	NP_476507.3:p.Pro2380=
NM_057167.4:c.8343C>T	NP_476508.2:p.Pro2781=