Canonical Allele Identifier: CA2187408

Gene: COL6A3

Linked Data

• dbSNP Id: rs768088549
• ExAC: 2:238244795 G / A
• gnomAD v2: 2-238244795-G-A
• gnomAD v4: 2-237336152-G-A
• MyVariant Identifiers: chr2:g.238244795G>A (hg19) ; chr2:g.237336152G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336152G>A , CM000664.2:g.237336152G>A	GRCh38
NC_000002.11:g.238244795G>A , CM000664.1:g.238244795G>A	GRCh37
NC_000002.10:g.237909534G>A	NCBI36
NG_008676.1:g.83056C>T , LRG_473:g.83056C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1593C>T
ENST00000353578.9:c.8330C>T	ENSP00000315873.4:p.Ala2777Val
ENST00000682957.1:c.1075C>T
ENST00000684508.1:n.1215C>T
ENST00000295550.9:c.8948C>T MANE Select	ENSP00000295550.4:p.Ala2983Val
ENST00000295550.8:c.8948C>T	ENSP00000295550.4:p.Ala2983Val
ENST00000347401.7:c.7124C>T	ENSP00000315609.4:p.Ala2375Val
ENST00000353578.8:c.8330C>T	ENSP00000315873.4:p.Ala2777Val
ENST00000409809.5:c.8330C>T	ENSP00000386844.1:p.Ala2777Val
ENST00000472056.5:c.7127C>T	ENSP00000418285.1:p.Ala2376Val
ENST00000491769.1:n.5390C>T
NM_004369.3:c.8948C>T , LRG_473t1:c.8948C>T	NP_004360.2:p.Ala2983Val
NM_057166.4:c.7127C>T	NP_476507.3:p.Ala2376Val
NM_057167.3:c.8330C>T	NP_476508.2:p.Ala2777Val
XM_005246065.1:c.8348C>T	XP_005246122.1:p.Ala2783Val
XM_005246066.1:c.7727C>T	XP_005246123.1:p.Ala2576Val
XM_006712253.1:c.8447C>T	XP_006712316.1:p.Ala2816Val
XM_011510574.1:c.8945C>T	XP_011508876.1:p.Ala2982Val
XM_011510575.1:c.6542C>T	XP_011508877.1:p.Ala2181Val
XM_017003304.1:c.6542C>T	XP_016858793.1:p.Ala2181Val
XM_024452684.1:c.7727C>T	XP_024308452.1:p.Ala2576Val
NM_004369.4:c.8948C>T MANE Select	NP_004360.2:p.Ala2983Val
NM_057166.5:c.7127C>T	NP_476507.3:p.Ala2376Val
NM_057167.4:c.8330C>T	NP_476508.2:p.Ala2777Val