Canonical Allele Identifier: CA351201887

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238253065C>G (hg19) ; chr2:g.237344422C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344422C>G , CM000664.2:g.237344422C>G	GRCh38
NC_000002.11:g.238253065C>G , CM000664.1:g.238253065C>G	GRCh37
NC_000002.10:g.237917804C>G	NCBI36
NG_008676.1:g.74786G>C , LRG_473:g.74786G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.241G>C
ENST00000353578.9:c.6978G>C	ENSP00000315873.4:p.Lys2326Asn
ENST00000295550.9:c.7596G>C MANE Select	ENSP00000295550.4:p.Lys2532Asn
ENST00000295550.8:c.7596G>C	ENSP00000295550.4:p.Lys2532Asn
ENST00000347401.7:c.5772G>C	ENSP00000315609.4:p.Lys1924Asn
ENST00000353578.8:c.6978G>C	ENSP00000315873.4:p.Lys2326Asn
ENST00000409809.5:c.6978G>C	ENSP00000386844.1:p.Lys2326Asn
ENST00000472056.5:c.5775G>C	ENSP00000418285.1:p.Lys1925Asn
ENST00000491769.1:n.1850G>C
NM_004369.3:c.7596G>C , LRG_473t1:c.7596G>C	NP_004360.2:p.Lys2532Asn
NM_057166.4:c.5775G>C	NP_476507.3:p.Lys1925Asn
NM_057167.3:c.6978G>C	NP_476508.2:p.Lys2326Asn
XM_005246065.1:c.6996G>C	XP_005246122.1:p.Lys2332Asn
XM_005246066.1:c.6375G>C	XP_005246123.1:p.Lys2125Asn
XM_006712253.1:c.7095G>C	XP_006712316.1:p.Lys2365Asn
XM_011510574.1:c.7593G>C	XP_011508876.1:p.Lys2531Asn
XM_011510575.1:c.5190G>C	XP_011508877.1:p.Lys1730Asn
XM_017003304.1:c.5190G>C	XP_016858793.1:p.Lys1730Asn
XM_024452684.1:c.6375G>C	XP_024308452.1:p.Lys2125Asn
NM_004369.4:c.7596G>C MANE Select	NP_004360.2:p.Lys2532Asn
NM_057166.5:c.5775G>C	NP_476507.3:p.Lys1925Asn
NM_057167.4:c.6978G>C	NP_476508.2:p.Lys2326Asn