Canonical Allele Identifier: CA351191851

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238245058C>G (hg19) ; chr2:g.237336415C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336415C>G , CM000664.2:g.237336415C>G	GRCh38
NC_000002.11:g.238245058C>G , CM000664.1:g.238245058C>G	GRCh37
NC_000002.10:g.237909797C>G	NCBI36
NG_008676.1:g.82793G>C , LRG_473:g.82793G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1330G>C
ENST00000353578.9:c.8067G>C	ENSP00000315873.4:p.Lys2689Asn
ENST00000682957.1:c.812G>C
ENST00000684508.1:n.952G>C
ENST00000295550.9:c.8685G>C MANE Select	ENSP00000295550.4:p.Lys2895Asn
ENST00000295550.8:c.8685G>C	ENSP00000295550.4:p.Lys2895Asn
ENST00000347401.7:c.6861G>C	ENSP00000315609.4:p.Lys2287Asn
ENST00000353578.8:c.8067G>C	ENSP00000315873.4:p.Lys2689Asn
ENST00000409809.5:c.8067G>C	ENSP00000386844.1:p.Lys2689Asn
ENST00000472056.5:c.6864G>C	ENSP00000418285.1:p.Lys2288Asn
ENST00000491769.1:n.5127G>C
NM_004369.3:c.8685G>C , LRG_473t1:c.8685G>C	NP_004360.2:p.Lys2895Asn
NM_057166.4:c.6864G>C	NP_476507.3:p.Lys2288Asn
NM_057167.3:c.8067G>C	NP_476508.2:p.Lys2689Asn
XM_005246065.1:c.8085G>C	XP_005246122.1:p.Lys2695Asn
XM_005246066.1:c.7464G>C	XP_005246123.1:p.Lys2488Asn
XM_006712253.1:c.8184G>C	XP_006712316.1:p.Lys2728Asn
XM_011510574.1:c.8682G>C	XP_011508876.1:p.Lys2894Asn
XM_011510575.1:c.6279G>C	XP_011508877.1:p.Lys2093Asn
XM_017003304.1:c.6279G>C	XP_016858793.1:p.Lys2093Asn
XM_024452684.1:c.7464G>C	XP_024308452.1:p.Lys2488Asn
NM_004369.4:c.8685G>C MANE Select	NP_004360.2:p.Lys2895Asn
NM_057166.5:c.6864G>C	NP_476507.3:p.Lys2288Asn
NM_057167.4:c.8067G>C	NP_476508.2:p.Lys2689Asn