Canonical Allele Identifier: CA351194244

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 2140839
• ClinVar RCV Id: RCV003056652
• MyVariant Identifiers: chr2:g.238249110G>A (hg19) ; chr2:g.237340467G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340467G>A , CM000664.2:g.237340467G>A	GRCh38
NC_000002.11:g.238249110G>A , CM000664.1:g.238249110G>A	GRCh37
NC_000002.10:g.237913849G>A	NCBI36
NG_008676.1:g.78741C>T , LRG_473:g.78741C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1094C>T
ENST00000353578.9:c.7831C>T	ENSP00000315873.4:p.Pro2611Ser
ENST00000682957.1:c.452C>T
ENST00000684508.1:n.716C>T
ENST00000295550.9:c.8449C>T MANE Select	ENSP00000295550.4:p.Pro2817Ser
ENST00000295550.8:c.8449C>T	ENSP00000295550.4:p.Pro2817Ser
ENST00000347401.7:c.6625C>T	ENSP00000315609.4:p.Pro2209Ser
ENST00000353578.8:c.7831C>T	ENSP00000315873.4:p.Pro2611Ser
ENST00000409809.5:c.7831C>T	ENSP00000386844.1:p.Pro2611Ser
ENST00000468792.1:n.136C>T
ENST00000472056.5:c.6628C>T	ENSP00000418285.1:p.Pro2210Ser
ENST00000491769.1:n.4891C>T
NM_004369.3:c.8449C>T , LRG_473t1:c.8449C>T	NP_004360.2:p.Pro2817Ser
NM_057166.4:c.6628C>T	NP_476507.3:p.Pro2210Ser
NM_057167.3:c.7831C>T	NP_476508.2:p.Pro2611Ser
XM_005246065.1:c.7849C>T	XP_005246122.1:p.Pro2617Ser
XM_005246066.1:c.7228C>T	XP_005246123.1:p.Pro2410Ser
XM_006712253.1:c.7948C>T	XP_006712316.1:p.Pro2650Ser
XM_011510574.1:c.8446C>T	XP_011508876.1:p.Pro2816Ser
XM_011510575.1:c.6043C>T	XP_011508877.1:p.Pro2015Ser
XM_017003304.1:c.6043C>T	XP_016858793.1:p.Pro2015Ser
XM_024452684.1:c.7228C>T	XP_024308452.1:p.Pro2410Ser
NM_004369.4:c.8449C>T MANE Select	NP_004360.2:p.Pro2817Ser
NM_057166.5:c.6628C>T	NP_476507.3:p.Pro2210Ser
NM_057167.4:c.7831C>T	NP_476508.2:p.Pro2611Ser