Canonical Allele Identifier: CA351191962

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238245118C>A (hg19) ; chr2:g.237336475C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336475C>A , CM000664.2:g.237336475C>A	GRCh38
NC_000002.11:g.238245118C>A , CM000664.1:g.238245118C>A	GRCh37
NC_000002.10:g.237909857C>A	NCBI36
NG_008676.1:g.82733G>T , LRG_473:g.82733G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1270G>T
ENST00000353578.9:c.8007G>T	ENSP00000315873.4:p.Lys2669Asn
ENST00000682957.1:c.752G>T
ENST00000684508.1:n.892G>T
ENST00000295550.9:c.8625G>T MANE Select	ENSP00000295550.4:p.Lys2875Asn
ENST00000295550.8:c.8625G>T	ENSP00000295550.4:p.Lys2875Asn
ENST00000347401.7:c.6801G>T	ENSP00000315609.4:p.Lys2267Asn
ENST00000353578.8:c.8007G>T	ENSP00000315873.4:p.Lys2669Asn
ENST00000409809.5:c.8007G>T	ENSP00000386844.1:p.Lys2669Asn
ENST00000472056.5:c.6804G>T	ENSP00000418285.1:p.Lys2268Asn
ENST00000491769.1:n.5067G>T
NM_004369.3:c.8625G>T , LRG_473t1:c.8625G>T	NP_004360.2:p.Lys2875Asn
NM_057166.4:c.6804G>T	NP_476507.3:p.Lys2268Asn
NM_057167.3:c.8007G>T	NP_476508.2:p.Lys2669Asn
XM_005246065.1:c.8025G>T	XP_005246122.1:p.Lys2675Asn
XM_005246066.1:c.7404G>T	XP_005246123.1:p.Lys2468Asn
XM_006712253.1:c.8124G>T	XP_006712316.1:p.Lys2708Asn
XM_011510574.1:c.8622G>T	XP_011508876.1:p.Lys2874Asn
XM_011510575.1:c.6219G>T	XP_011508877.1:p.Lys2073Asn
XM_017003304.1:c.6219G>T	XP_016858793.1:p.Lys2073Asn
XM_024452684.1:c.7404G>T	XP_024308452.1:p.Lys2468Asn
NM_004369.4:c.8625G>T MANE Select	NP_004360.2:p.Lys2875Asn
NM_057166.5:c.6804G>T	NP_476507.3:p.Lys2268Asn
NM_057167.4:c.8007G>T	NP_476508.2:p.Lys2669Asn