Canonical Allele Identifier: CA351202315

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238253123A>G (hg19) ; chr2:g.237344480A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344480A>G , CM000664.2:g.237344480A>G	GRCh38
NC_000002.11:g.238253123A>G , CM000664.1:g.238253123A>G	GRCh37
NC_000002.10:g.237917862A>G	NCBI36
NG_008676.1:g.74728T>C , LRG_473:g.74728T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.183T>C
ENST00000353578.9:c.6920T>C	ENSP00000315873.4:p.Val2307Ala
ENST00000295550.9:c.7538T>C MANE Select	ENSP00000295550.4:p.Val2513Ala
ENST00000295550.8:c.7538T>C	ENSP00000295550.4:p.Val2513Ala
ENST00000347401.7:c.5714T>C	ENSP00000315609.4:p.Val1905Ala
ENST00000353578.8:c.6920T>C	ENSP00000315873.4:p.Val2307Ala
ENST00000409809.5:c.6920T>C	ENSP00000386844.1:p.Val2307Ala
ENST00000472056.5:c.5717T>C	ENSP00000418285.1:p.Val1906Ala
ENST00000491769.1:n.1792T>C
NM_004369.3:c.7538T>C , LRG_473t1:c.7538T>C	NP_004360.2:p.Val2513Ala
NM_057166.4:c.5717T>C	NP_476507.3:p.Val1906Ala
NM_057167.3:c.6920T>C	NP_476508.2:p.Val2307Ala
XM_005246065.1:c.6938T>C	XP_005246122.1:p.Val2313Ala
XM_005246066.1:c.6317T>C	XP_005246123.1:p.Val2106Ala
XM_006712253.1:c.7037T>C	XP_006712316.1:p.Val2346Ala
XM_011510574.1:c.7535T>C	XP_011508876.1:p.Val2512Ala
XM_011510575.1:c.5132T>C	XP_011508877.1:p.Val1711Ala
XM_017003304.1:c.5132T>C	XP_016858793.1:p.Val1711Ala
XM_024452684.1:c.6317T>C	XP_024308452.1:p.Val2106Ala
NM_004369.4:c.7538T>C MANE Select	NP_004360.2:p.Val2513Ala
NM_057166.5:c.5717T>C	NP_476507.3:p.Val1906Ala
NM_057167.4:c.6920T>C	NP_476508.2:p.Val2307Ala