Canonical Allele Identifier: CA351189689

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237334886-T-G
• MyVariant Identifiers: chr2:g.238243529T>G (hg19) ; chr2:g.237334886T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334886T>G , CM000664.2:g.237334886T>G	GRCh38
NC_000002.11:g.238243529T>G , CM000664.1:g.238243529T>G	GRCh37
NC_000002.10:g.237908268T>G	NCBI36
NG_008676.1:g.84322A>C , LRG_473:g.84322A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.1610+1249A>C
ENST00000353578.9:c.8351A>C	ENSP00000315873.4:p.Lys2784Thr
ENST00000682957.1:c.1096A>C
ENST00000295550.9:c.8969A>C MANE Select	ENSP00000295550.4:p.Lys2990Thr
ENST00000295550.8:c.8969A>C	ENSP00000295550.4:p.Lys2990Thr
ENST00000347401.7:c.7145A>C	ENSP00000315609.4:p.Lys2382Thr
ENST00000353578.8:c.8351A>C	ENSP00000315873.4:p.Lys2784Thr
ENST00000409809.5:c.8351A>C	ENSP00000386844.1:p.Lys2784Thr
ENST00000472056.5:c.7148A>C	ENSP00000418285.1:p.Lys2383Thr
ENST00000491769.1:n.5411A>C
NM_004369.3:c.8969A>C , LRG_473t1:c.8969A>C	NP_004360.2:p.Lys2990Thr
NM_057166.4:c.7148A>C	NP_476507.3:p.Lys2383Thr
NM_057167.3:c.8351A>C	NP_476508.2:p.Lys2784Thr
XM_005246065.1:c.8369A>C	XP_005246122.1:p.Lys2790Thr
XM_005246066.1:c.7748A>C	XP_005246123.1:p.Lys2583Thr
XM_006712253.1:c.8468A>C	XP_006712316.1:p.Lys2823Thr
XM_011510574.1:c.8966A>C	XP_011508876.1:p.Lys2989Thr
XM_011510575.1:c.6563A>C	XP_011508877.1:p.Lys2188Thr
XM_017003304.1:c.6563A>C	XP_016858793.1:p.Lys2188Thr
XM_024452684.1:c.7748A>C	XP_024308452.1:p.Lys2583Thr
NM_004369.4:c.8969A>C MANE Select	NP_004360.2:p.Lys2990Thr
NM_057166.5:c.7148A>C	NP_476507.3:p.Lys2383Thr
NM_057167.4:c.8351A>C	NP_476508.2:p.Lys2784Thr