Canonical Allele Identifier: CA351192016

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238245146G>A (hg19) ; chr2:g.237336503G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336503G>A , CM000664.2:g.237336503G>A	GRCh38
NC_000002.11:g.238245146G>A , CM000664.1:g.238245146G>A	GRCh37
NC_000002.10:g.237909885G>A	NCBI36
NG_008676.1:g.82705C>T , LRG_473:g.82705C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1242C>T
ENST00000353578.9:c.7979C>T	ENSP00000315873.4:p.Pro2660Leu
ENST00000682957.1:c.724C>T
ENST00000684508.1:n.864C>T
ENST00000295550.9:c.8597C>T MANE Select	ENSP00000295550.4:p.Pro2866Leu
ENST00000295550.8:c.8597C>T	ENSP00000295550.4:p.Pro2866Leu
ENST00000347401.7:c.6773C>T	ENSP00000315609.4:p.Pro2258Leu
ENST00000353578.8:c.7979C>T	ENSP00000315873.4:p.Pro2660Leu
ENST00000409809.5:c.7979C>T	ENSP00000386844.1:p.Pro2660Leu
ENST00000472056.5:c.6776C>T	ENSP00000418285.1:p.Pro2259Leu
ENST00000491769.1:n.5039C>T
NM_004369.3:c.8597C>T , LRG_473t1:c.8597C>T	NP_004360.2:p.Pro2866Leu
NM_057166.4:c.6776C>T	NP_476507.3:p.Pro2259Leu
NM_057167.3:c.7979C>T	NP_476508.2:p.Pro2660Leu
XM_005246065.1:c.7997C>T	XP_005246122.1:p.Pro2666Leu
XM_005246066.1:c.7376C>T	XP_005246123.1:p.Pro2459Leu
XM_006712253.1:c.8096C>T	XP_006712316.1:p.Pro2699Leu
XM_011510574.1:c.8594C>T	XP_011508876.1:p.Pro2865Leu
XM_011510575.1:c.6191C>T	XP_011508877.1:p.Pro2064Leu
XM_017003304.1:c.6191C>T	XP_016858793.1:p.Pro2064Leu
XM_024452684.1:c.7376C>T	XP_024308452.1:p.Pro2459Leu
NM_004369.4:c.8597C>T MANE Select	NP_004360.2:p.Pro2866Leu
NM_057166.5:c.6776C>T	NP_476507.3:p.Pro2259Leu
NM_057167.4:c.7979C>T	NP_476508.2:p.Pro2660Leu