Canonical Allele Identifier: CA351191658

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237336337-C-A
• MyVariant Identifiers: chr2:g.238244980C>A (hg19) ; chr2:g.237336337C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336337C>A , CM000664.2:g.237336337C>A	GRCh38
NC_000002.11:g.238244980C>A , CM000664.1:g.238244980C>A	GRCh37
NC_000002.10:g.237909719C>A	NCBI36
NG_008676.1:g.82871G>T , LRG_473:g.82871G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1408G>T
ENST00000353578.9:c.8145G>T	ENSP00000315873.4:p.Lys2715Asn
ENST00000682957.1:c.890G>T
ENST00000684508.1:n.1030G>T
ENST00000295550.9:c.8763G>T MANE Select	ENSP00000295550.4:p.Lys2921Asn
ENST00000295550.8:c.8763G>T	ENSP00000295550.4:p.Lys2921Asn
ENST00000347401.7:c.6939G>T	ENSP00000315609.4:p.Lys2313Asn
ENST00000353578.8:c.8145G>T	ENSP00000315873.4:p.Lys2715Asn
ENST00000409809.5:c.8145G>T	ENSP00000386844.1:p.Lys2715Asn
ENST00000472056.5:c.6942G>T	ENSP00000418285.1:p.Lys2314Asn
ENST00000491769.1:n.5205G>T
NM_004369.3:c.8763G>T , LRG_473t1:c.8763G>T	NP_004360.2:p.Lys2921Asn
NM_057166.4:c.6942G>T	NP_476507.3:p.Lys2314Asn
NM_057167.3:c.8145G>T	NP_476508.2:p.Lys2715Asn
XM_005246065.1:c.8163G>T	XP_005246122.1:p.Lys2721Asn
XM_005246066.1:c.7542G>T	XP_005246123.1:p.Lys2514Asn
XM_006712253.1:c.8262G>T	XP_006712316.1:p.Lys2754Asn
XM_011510574.1:c.8760G>T	XP_011508876.1:p.Lys2920Asn
XM_011510575.1:c.6357G>T	XP_011508877.1:p.Lys2119Asn
XM_017003304.1:c.6357G>T	XP_016858793.1:p.Lys2119Asn
XM_024452684.1:c.7542G>T	XP_024308452.1:p.Lys2514Asn
NM_004369.4:c.8763G>T MANE Select	NP_004360.2:p.Lys2921Asn
NM_057166.5:c.6942G>T	NP_476507.3:p.Lys2314Asn
NM_057167.4:c.8145G>T	NP_476508.2:p.Lys2715Asn