Canonical Allele Identifier: CA351197120

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238249606C>A (hg19) ; chr2:g.237340963C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340963C>A , CM000664.2:g.237340963C>A	GRCh38
NC_000002.11:g.238249606C>A , CM000664.1:g.238249606C>A	GRCh37
NC_000002.10:g.237914345C>A	NCBI36
NG_008676.1:g.78245G>T , LRG_473:g.78245G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.598G>T
ENST00000353578.9:c.7335G>T	ENSP00000315873.4:p.Met2445Ile
ENST00000684508.1:n.220G>T
ENST00000295550.9:c.7953G>T MANE Select	ENSP00000295550.4:p.Met2651Ile
ENST00000295550.8:c.7953G>T	ENSP00000295550.4:p.Met2651Ile
ENST00000347401.7:c.6129G>T	ENSP00000315609.4:p.Met2043Ile
ENST00000353578.8:c.7335G>T	ENSP00000315873.4:p.Met2445Ile
ENST00000409809.5:c.7335G>T	ENSP00000386844.1:p.Met2445Ile
ENST00000472056.5:c.6132G>T	ENSP00000418285.1:p.Met2044Ile
ENST00000491769.1:n.4395G>T
NM_004369.3:c.7953G>T , LRG_473t1:c.7953G>T	NP_004360.2:p.Met2651Ile
NM_057166.4:c.6132G>T	NP_476507.3:p.Met2044Ile
NM_057167.3:c.7335G>T	NP_476508.2:p.Met2445Ile
XM_005246065.1:c.7353G>T	XP_005246122.1:p.Met2451Ile
XM_005246066.1:c.6732G>T	XP_005246123.1:p.Met2244Ile
XM_006712253.1:c.7452G>T	XP_006712316.1:p.Met2484Ile
XM_011510574.1:c.7950G>T	XP_011508876.1:p.Met2650Ile
XM_011510575.1:c.5547G>T	XP_011508877.1:p.Met1849Ile
XM_017003304.1:c.5547G>T	XP_016858793.1:p.Met1849Ile
XM_024452684.1:c.6732G>T	XP_024308452.1:p.Met2244Ile
NM_004369.4:c.7953G>T MANE Select	NP_004360.2:p.Met2651Ile
NM_057166.5:c.6132G>T	NP_476507.3:p.Met2044Ile
NM_057167.4:c.7335G>T	NP_476508.2:p.Met2445Ile