Canonical Allele Identifier: CA351188780

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237334787-G-T
• MyVariant Identifiers: chr2:g.238243430G>T (hg19) ; chr2:g.237334787G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334787G>T , CM000664.2:g.237334787G>T	GRCh38
NC_000002.11:g.238243430G>T , CM000664.1:g.238243430G>T	GRCh37
NC_000002.10:g.237908169G>T	NCBI36
NG_008676.1:g.84421C>A , LRG_473:g.84421C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.1611-1239C>A
ENST00000353578.9:c.8450C>A	ENSP00000315873.4:p.Thr2817Asn
ENST00000682957.1:c.1195C>A
ENST00000295550.9:c.9068C>A MANE Select	ENSP00000295550.4:p.Thr3023Asn
ENST00000295550.8:c.9068C>A	ENSP00000295550.4:p.Thr3023Asn
ENST00000347401.7:c.7244C>A	ENSP00000315609.4:p.Thr2415Asn
ENST00000353578.8:c.8450C>A	ENSP00000315873.4:p.Thr2817Asn
ENST00000409809.5:c.8450C>A	ENSP00000386844.1:p.Thr2817Asn
ENST00000472056.5:c.7247C>A	ENSP00000418285.1:p.Thr2416Asn
ENST00000491769.1:n.5510C>A
NM_004369.3:c.9068C>A , LRG_473t1:c.9068C>A	NP_004360.2:p.Thr3023Asn
NM_057166.4:c.7247C>A	NP_476507.3:p.Thr2416Asn
NM_057167.3:c.8450C>A	NP_476508.2:p.Thr2817Asn
XM_005246065.1:c.8468C>A	XP_005246122.1:p.Thr2823Asn
XM_005246066.1:c.7847C>A	XP_005246123.1:p.Thr2616Asn
XM_006712253.1:c.8567C>A	XP_006712316.1:p.Thr2856Asn
XM_011510574.1:c.9065C>A	XP_011508876.1:p.Thr3022Asn
XM_011510575.1:c.6662C>A	XP_011508877.1:p.Thr2221Asn
XM_017003304.1:c.6662C>A	XP_016858793.1:p.Thr2221Asn
XM_024452684.1:c.7847C>A	XP_024308452.1:p.Thr2616Asn
NM_004369.4:c.9068C>A MANE Select	NP_004360.2:p.Thr3023Asn
NM_057166.5:c.7247C>A	NP_476507.3:p.Thr2416Asn
NM_057167.4:c.8450C>A	NP_476508.2:p.Thr2817Asn