Canonical Allele Identifier: CA449679893

Gene: C2

Linked Data

• MyVariant Identifiers: chr6:g.31910848T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31943071T>G , CM000668.2:g.31943071T>G	GRCh38
NC_000006.11:g.31910848T>G , CM000668.1:g.31910848T>G	GRCh37
NC_000006.10:g.32018827T>G	NCBI36
NG_008191.1:g.2128T>G , LRG_136:g.2128T>G
NG_011730.1:g.20583T>G , LRG_26:g.20583T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000447952.7:c.1146T>G	ENSP00000391354.3:p.Ala382=
ENST00000452323.7:c.690T>G	ENSP00000392322.2:p.Ala230=
ENST00000468407.2:c.1332T>G	ENSP00000512075.1:p.Ala444=
ENST00000497706.6:c.693T>G	ENSP00000417482.2:p.Ala231=
ENST00000695637.1:c.927T>G	ENSP00000512074.1:p.Ala309=
ENST00000695638.1:c.1332T>G	ENSP00000512076.1:p.Ala444=
ENST00000695644.1:c.936T>G	ENSP00000512079.1:p.Ala312=
ENST00000695645.1:n.702T>G
ENST00000695646.1:n.804T>G
ENST00000299367.10:c.1332T>G MANE Select	ENSP00000299367.5:p.Ala444=
ENST00000299367.9:c.1332T>G	ENSP00000299367.5:p.Ala444=
ENST00000383177.7:c.653T>G
ENST00000442278.6:c.936T>G	ENSP00000395683.2:p.Ala312=
ENST00000452323.6:c.690T>G	ENSP00000392322.2:p.Ala230=
ENST00000456570.5:c.873T>G	ENSP00000410815.1:p.Ala291=
ENST00000469372.5:c.594T>G	ENSP00000418923.1:p.Ala198=
ENST00000477310.1:c.674-154T>G	ENSP00000418996.1:n.674-154T>G
ENST00000482060.5:c.*1045T>G	ENSP00000418332.1:n.*1045T>G
ENST00000485690.5:c.544T>G
ENST00000486124.5:n.1608T>G
ENST00000497706.5:c.693T>G	ENSP00000417482.1:p.Ala231=
NM_000063.5:c.1332T>G	NP_000054.2:p.Ala444=
NM_001145903.2:c.936T>G	NP_001139375.1:p.Ala312=
NM_001178063.2:c.690T>G	NP_001171534.1:p.Ala230=
NM_001282457.1:c.594T>G	NP_001269386.1:p.Ala198=
NM_001282458.1:c.1245T>G	NP_001269387.1:p.Ala415=
NM_000063.6:c.1332T>G MANE Select	NP_000054.2:p.Ala444=
NM_001145903.3:c.936T>G	NP_001139375.1:p.Ala312=
NM_001282457.2:c.594T>G	NP_001269386.1:p.Ala198=
NM_001282458.2:c.1245T>G	NP_001269387.1:p.Ala415=
NM_001178063.3:c.690T>G	NP_001171534.1:p.Ala230=