Canonical Allele Identifier: CA351191311

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238244909A>G (hg19) ; chr2:g.237336266A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336266A>G , CM000664.2:g.237336266A>G	GRCh38
NC_000002.11:g.238244909A>G , CM000664.1:g.238244909A>G	GRCh37
NC_000002.10:g.237909648A>G	NCBI36
NG_008676.1:g.82942T>C , LRG_473:g.82942T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1479T>C
ENST00000353578.9:c.8216T>C	ENSP00000315873.4:p.Val2739Ala
ENST00000682957.1:c.961T>C
ENST00000684508.1:n.1101T>C
ENST00000295550.9:c.8834T>C MANE Select	ENSP00000295550.4:p.Val2945Ala
ENST00000295550.8:c.8834T>C	ENSP00000295550.4:p.Val2945Ala
ENST00000347401.7:c.7010T>C	ENSP00000315609.4:p.Val2337Ala
ENST00000353578.8:c.8216T>C	ENSP00000315873.4:p.Val2739Ala
ENST00000409809.5:c.8216T>C	ENSP00000386844.1:p.Val2739Ala
ENST00000472056.5:c.7013T>C	ENSP00000418285.1:p.Val2338Ala
ENST00000491769.1:n.5276T>C
NM_004369.3:c.8834T>C , LRG_473t1:c.8834T>C	NP_004360.2:p.Val2945Ala
NM_057166.4:c.7013T>C	NP_476507.3:p.Val2338Ala
NM_057167.3:c.8216T>C	NP_476508.2:p.Val2739Ala
XM_005246065.1:c.8234T>C	XP_005246122.1:p.Val2745Ala
XM_005246066.1:c.7613T>C	XP_005246123.1:p.Val2538Ala
XM_006712253.1:c.8333T>C	XP_006712316.1:p.Val2778Ala
XM_011510574.1:c.8831T>C	XP_011508876.1:p.Val2944Ala
XM_011510575.1:c.6428T>C	XP_011508877.1:p.Val2143Ala
XM_017003304.1:c.6428T>C	XP_016858793.1:p.Val2143Ala
XM_024452684.1:c.7613T>C	XP_024308452.1:p.Val2538Ala
NM_004369.4:c.8834T>C MANE Select	NP_004360.2:p.Val2945Ala
NM_057166.5:c.7013T>C	NP_476507.3:p.Val2338Ala
NM_057167.4:c.8216T>C	NP_476508.2:p.Val2739Ala