Canonical Allele Identifier: CA351191816

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238245041T>G (hg19) ; chr2:g.237336398T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336398T>G , CM000664.2:g.237336398T>G	GRCh38
NC_000002.11:g.238245041T>G , CM000664.1:g.238245041T>G	GRCh37
NC_000002.10:g.237909780T>G	NCBI36
NG_008676.1:g.82810A>C , LRG_473:g.82810A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1347A>C
ENST00000353578.9:c.8084A>C	ENSP00000315873.4:p.Asn2695Thr
ENST00000682957.1:c.829A>C
ENST00000684508.1:n.969A>C
ENST00000295550.9:c.8702A>C MANE Select	ENSP00000295550.4:p.Asn2901Thr
ENST00000295550.8:c.8702A>C	ENSP00000295550.4:p.Asn2901Thr
ENST00000347401.7:c.6878A>C	ENSP00000315609.4:p.Asn2293Thr
ENST00000353578.8:c.8084A>C	ENSP00000315873.4:p.Asn2695Thr
ENST00000409809.5:c.8084A>C	ENSP00000386844.1:p.Asn2695Thr
ENST00000472056.5:c.6881A>C	ENSP00000418285.1:p.Asn2294Thr
ENST00000491769.1:n.5144A>C
NM_004369.3:c.8702A>C , LRG_473t1:c.8702A>C	NP_004360.2:p.Asn2901Thr
NM_057166.4:c.6881A>C	NP_476507.3:p.Asn2294Thr
NM_057167.3:c.8084A>C	NP_476508.2:p.Asn2695Thr
XM_005246065.1:c.8102A>C	XP_005246122.1:p.Asn2701Thr
XM_005246066.1:c.7481A>C	XP_005246123.1:p.Asn2494Thr
XM_006712253.1:c.8201A>C	XP_006712316.1:p.Asn2734Thr
XM_011510574.1:c.8699A>C	XP_011508876.1:p.Asn2900Thr
XM_011510575.1:c.6296A>C	XP_011508877.1:p.Asn2099Thr
XM_017003304.1:c.6296A>C	XP_016858793.1:p.Asn2099Thr
XM_024452684.1:c.7481A>C	XP_024308452.1:p.Asn2494Thr
NM_004369.4:c.8702A>C MANE Select	NP_004360.2:p.Asn2901Thr
NM_057166.5:c.6881A>C	NP_476507.3:p.Asn2294Thr
NM_057167.4:c.8084A>C	NP_476508.2:p.Asn2695Thr