Canonical Allele Identifier: CA351209170

Gene: COL6A3

Linked Data

• dbSNP Id: rs1314959942
• gnomAD v2: 2-238258812-T-G
• MyVariant Identifiers: chr2:g.238258812T>G (hg19) ; chr2:g.237350169T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237350169T>G , CM000664.2:g.237350169T>G	GRCh38
NC_000002.11:g.238258812T>G , CM000664.1:g.238258812T>G	GRCh37
NC_000002.10:g.237923551T>G	NCBI36
NG_008676.1:g.69039A>C , LRG_473:g.69039A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000353578.9:c.6239A>C	ENSP00000315873.4:p.Asn2080Thr
ENST00000295550.9:c.6857A>C MANE Select	ENSP00000295550.4:p.Asn2286Thr
ENST00000295550.8:c.6857A>C	ENSP00000295550.4:p.Asn2286Thr
ENST00000347401.7:c.5036A>C	ENSP00000315609.4:p.Asn1679Thr
ENST00000353578.8:c.6239A>C	ENSP00000315873.4:p.Asn2080Thr
ENST00000409809.5:c.6239A>C	ENSP00000386844.1:p.Asn2080Thr
ENST00000472056.5:c.5036A>C	ENSP00000418285.1:p.Asn1679Thr
ENST00000491769.1:n.1111A>C
NM_004369.3:c.6857A>C , LRG_473t1:c.6857A>C	NP_004360.2:p.Asn2286Thr
NM_057166.4:c.5036A>C	NP_476507.3:p.Asn1679Thr
NM_057167.3:c.6239A>C	NP_476508.2:p.Asn2080Thr
XM_005246065.1:c.6257A>C	XP_005246122.1:p.Asn2086Thr
XM_005246066.1:c.5636A>C	XP_005246123.1:p.Asn1879Thr
XM_006712253.1:c.6356A>C	XP_006712316.1:p.Asn2119Thr
XM_011510574.1:c.6854A>C	XP_011508876.1:p.Asn2285Thr
XM_011510575.1:c.4451A>C	XP_011508877.1:p.Asn1484Thr
XM_017003304.1:c.4451A>C	XP_016858793.1:p.Asn1484Thr
XM_024452684.1:c.5636A>C	XP_024308452.1:p.Asn1879Thr
NM_004369.4:c.6857A>C MANE Select	NP_004360.2:p.Asn2286Thr
NM_057166.5:c.5036A>C	NP_476507.3:p.Asn1679Thr
NM_057167.4:c.6239A>C	NP_476508.2:p.Asn2080Thr