Canonical Allele Identifier: CA351192031

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237336510-A-C
• MyVariant Identifiers: chr2:g.238245153A>C (hg19) ; chr2:g.237336510A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336510A>C , CM000664.2:g.237336510A>C	GRCh38
NC_000002.11:g.238245153A>C , CM000664.1:g.238245153A>C	GRCh37
NC_000002.10:g.237909892A>C	NCBI36
NG_008676.1:g.82698T>G , LRG_473:g.82698T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1235T>G
ENST00000353578.9:c.7972T>G	ENSP00000315873.4:p.Ser2658Ala
ENST00000682957.1:c.717T>G
ENST00000684508.1:n.857T>G
ENST00000295550.9:c.8590T>G MANE Select	ENSP00000295550.4:p.Ser2864Ala
ENST00000295550.8:c.8590T>G	ENSP00000295550.4:p.Ser2864Ala
ENST00000347401.7:c.6766T>G	ENSP00000315609.4:p.Ser2256Ala
ENST00000353578.8:c.7972T>G	ENSP00000315873.4:p.Ser2658Ala
ENST00000409809.5:c.7972T>G	ENSP00000386844.1:p.Ser2658Ala
ENST00000472056.5:c.6769T>G	ENSP00000418285.1:p.Ser2257Ala
ENST00000491769.1:n.5032T>G
NM_004369.3:c.8590T>G , LRG_473t1:c.8590T>G	NP_004360.2:p.Ser2864Ala
NM_057166.4:c.6769T>G	NP_476507.3:p.Ser2257Ala
NM_057167.3:c.7972T>G	NP_476508.2:p.Ser2658Ala
XM_005246065.1:c.7990T>G	XP_005246122.1:p.Ser2664Ala
XM_005246066.1:c.7369T>G	XP_005246123.1:p.Ser2457Ala
XM_006712253.1:c.8089T>G	XP_006712316.1:p.Ser2697Ala
XM_011510574.1:c.8587T>G	XP_011508876.1:p.Ser2863Ala
XM_011510575.1:c.6184T>G	XP_011508877.1:p.Ser2062Ala
XM_017003304.1:c.6184T>G	XP_016858793.1:p.Ser2062Ala
XM_024452684.1:c.7369T>G	XP_024308452.1:p.Ser2457Ala
NM_004369.4:c.8590T>G MANE Select	NP_004360.2:p.Ser2864Ala
NM_057166.5:c.6769T>G	NP_476507.3:p.Ser2257Ala
NM_057167.4:c.7972T>G	NP_476508.2:p.Ser2658Ala