Canonical Allele Identifier: CA351189643

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238243524A>G (hg19) ; chr2:g.237334881A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334881A>G , CM000664.2:g.237334881A>G	GRCh38
NC_000002.11:g.238243524A>G , CM000664.1:g.238243524A>G	GRCh37
NC_000002.10:g.237908263A>G	NCBI36
NG_008676.1:g.84327T>C , LRG_473:g.84327T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.1610+1254T>C
ENST00000353578.9:c.8356T>C	ENSP00000315873.4:p.Ser2786Pro
ENST00000682957.1:c.1101T>C
ENST00000295550.9:c.8974T>C MANE Select	ENSP00000295550.4:p.Ser2992Pro
ENST00000295550.8:c.8974T>C	ENSP00000295550.4:p.Ser2992Pro
ENST00000347401.7:c.7150T>C	ENSP00000315609.4:p.Ser2384Pro
ENST00000353578.8:c.8356T>C	ENSP00000315873.4:p.Ser2786Pro
ENST00000409809.5:c.8356T>C	ENSP00000386844.1:p.Ser2786Pro
ENST00000472056.5:c.7153T>C	ENSP00000418285.1:p.Ser2385Pro
ENST00000491769.1:n.5416T>C
NM_004369.3:c.8974T>C , LRG_473t1:c.8974T>C	NP_004360.2:p.Ser2992Pro
NM_057166.4:c.7153T>C	NP_476507.3:p.Ser2385Pro
NM_057167.3:c.8356T>C	NP_476508.2:p.Ser2786Pro
XM_005246065.1:c.8374T>C	XP_005246122.1:p.Ser2792Pro
XM_005246066.1:c.7753T>C	XP_005246123.1:p.Ser2585Pro
XM_006712253.1:c.8473T>C	XP_006712316.1:p.Ser2825Pro
XM_011510574.1:c.8971T>C	XP_011508876.1:p.Ser2991Pro
XM_011510575.1:c.6568T>C	XP_011508877.1:p.Ser2190Pro
XM_017003304.1:c.6568T>C	XP_016858793.1:p.Ser2190Pro
XM_024452684.1:c.7753T>C	XP_024308452.1:p.Ser2585Pro
NM_004369.4:c.8974T>C MANE Select	NP_004360.2:p.Ser2992Pro
NM_057166.5:c.7153T>C	NP_476507.3:p.Ser2385Pro
NM_057167.4:c.8356T>C	NP_476508.2:p.Ser2786Pro