Canonical Allele Identifier: CA351190854

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238244779C>G (hg19) ; chr2:g.237336136C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336136C>G , CM000664.2:g.237336136C>G	GRCh38
NC_000002.11:g.238244779C>G , CM000664.1:g.238244779C>G	GRCh37
NC_000002.10:g.237909518C>G	NCBI36
NG_008676.1:g.83072G>C , LRG_473:g.83072G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1609G>C
ENST00000353578.9:c.8346G>C	ENSP00000315873.4:p.Met2782Ile
ENST00000682957.1:c.1091G>C
ENST00000684508.1:n.1231G>C
ENST00000295550.9:c.8964G>C MANE Select	ENSP00000295550.4:p.Met2988Ile
ENST00000295550.8:c.8964G>C	ENSP00000295550.4:p.Met2988Ile
ENST00000347401.7:c.7140G>C	ENSP00000315609.4:p.Met2380Ile
ENST00000353578.8:c.8346G>C	ENSP00000315873.4:p.Met2782Ile
ENST00000409809.5:c.8346G>C	ENSP00000386844.1:p.Met2782Ile
ENST00000472056.5:c.7143G>C	ENSP00000418285.1:p.Met2381Ile
ENST00000491769.1:n.5406G>C
NM_004369.3:c.8964G>C , LRG_473t1:c.8964G>C	NP_004360.2:p.Met2988Ile
NM_057166.4:c.7143G>C	NP_476507.3:p.Met2381Ile
NM_057167.3:c.8346G>C	NP_476508.2:p.Met2782Ile
XM_005246065.1:c.8364G>C	XP_005246122.1:p.Met2788Ile
XM_005246066.1:c.7743G>C	XP_005246123.1:p.Met2581Ile
XM_006712253.1:c.8463G>C	XP_006712316.1:p.Met2821Ile
XM_011510574.1:c.8961G>C	XP_011508876.1:p.Met2987Ile
XM_011510575.1:c.6558G>C	XP_011508877.1:p.Met2186Ile
XM_017003304.1:c.6558G>C	XP_016858793.1:p.Met2186Ile
XM_024452684.1:c.7743G>C	XP_024308452.1:p.Met2581Ile
NM_004369.4:c.8964G>C MANE Select	NP_004360.2:p.Met2988Ile
NM_057166.5:c.7143G>C	NP_476507.3:p.Met2381Ile
NM_057167.4:c.8346G>C	NP_476508.2:p.Met2782Ile