Canonical Allele Identifier: CA431678470

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238268785A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237360142A>G , CM000664.2:g.237360142A>G	GRCh38
NC_000002.11:g.238268785A>G , CM000664.1:g.238268785A>G	GRCh37
NC_000002.10:g.237933524A>G	NCBI36
NG_008676.1:g.59066T>C , LRG_473:g.59066T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.5610T>C	ENSP00000315873.4:p.Pro1870=
ENST00000295550.9:c.6228T>C MANE Select	ENSP00000295550.4:p.Pro2076=
ENST00000295550.8:c.6228T>C	ENSP00000295550.4:p.Pro2076=
ENST00000347401.7:c.4407T>C	ENSP00000315609.4:p.Pro1469=
ENST00000353578.8:c.5610T>C	ENSP00000315873.4:p.Pro1870=
ENST00000409809.5:c.5610T>C	ENSP00000386844.1:p.Pro1870=
ENST00000472056.5:c.4407T>C	ENSP00000418285.1:p.Pro1469=
NM_004369.3:c.6228T>C , LRG_473t1:c.6228T>C	NP_004360.2:p.Pro2076=
NM_057166.4:c.4407T>C	NP_476507.3:p.Pro1469=
NM_057167.3:c.5610T>C	NP_476508.2:p.Pro1870=
XM_005246065.1:c.5628T>C	XP_005246122.1:p.Pro1876=
XM_005246066.1:c.5007T>C	XP_005246123.1:p.Pro1669=
XM_006712253.1:c.5727T>C	XP_006712316.1:p.Pro1909=
XM_011510574.1:c.6225T>C	XP_011508876.1:p.Pro2075=
XM_011510575.1:c.3822T>C	XP_011508877.1:p.Pro1274=
XM_017003304.1:c.3822T>C	XP_016858793.1:p.Pro1274=
XM_024452684.1:c.5007T>C	XP_024308452.1:p.Pro1669=
NM_004369.4:c.6228T>C MANE Select	NP_004360.2:p.Pro2076=
NM_057166.5:c.4407T>C	NP_476507.3:p.Pro1469=
NM_057167.4:c.5610T>C	NP_476508.2:p.Pro1870=