Canonical Allele Identifier: CA363376282

Gene: C2

Linked Data

• MyVariant Identifiers: chr6:g.31910844A>T (hg19) ; chr6:g.31943067A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31943067A>T , CM000668.2:g.31943067A>T	GRCh38
NC_000006.11:g.31910844A>T , CM000668.1:g.31910844A>T	GRCh37
NC_000006.10:g.32018823A>T	NCBI36
NG_008191.1:g.2124A>T , LRG_136:g.2124A>T
NG_011730.1:g.20579A>T , LRG_26:g.20579A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000447952.7:c.1142A>T	ENSP00000391354.3:p.Lys381Met
ENST00000452323.7:c.686A>T	ENSP00000392322.2:p.Lys229Met
ENST00000468407.2:c.1328A>T	ENSP00000512075.1:p.Lys443Met
ENST00000497706.6:c.689A>T	ENSP00000417482.2:p.Lys230Met
ENST00000695637.1:c.923A>T	ENSP00000512074.1:p.Lys308Met
ENST00000695638.1:c.1328A>T	ENSP00000512076.1:p.Lys443Met
ENST00000695644.1:c.932A>T	ENSP00000512079.1:p.Lys311Met
ENST00000695645.1:n.698A>T
ENST00000695646.1:n.800A>T
ENST00000299367.10:c.1328A>T MANE Select	ENSP00000299367.5:p.Lys443Met
ENST00000299367.9:c.1328A>T	ENSP00000299367.5:p.Lys443Met
ENST00000383177.7:c.649A>T
ENST00000442278.6:c.932A>T	ENSP00000395683.2:p.Lys311Met
ENST00000452323.6:c.686A>T	ENSP00000392322.2:p.Lys229Met
ENST00000456570.5:c.869A>T	ENSP00000410815.1:p.Lys290Met
ENST00000469372.5:c.590A>T	ENSP00000418923.1:p.Lys197Met
ENST00000477310.1:c.674-158A>T	ENSP00000418996.1:n.674-158A>T
ENST00000482060.5:c.*1041A>T	ENSP00000418332.1:n.*1041A>T
ENST00000485690.5:c.540A>T
ENST00000486124.5:n.1604A>T
ENST00000497706.5:c.689A>T	ENSP00000417482.1:p.Lys230Met
NM_000063.5:c.1328A>T	NP_000054.2:p.Lys443Met
NM_001145903.2:c.932A>T	NP_001139375.1:p.Lys311Met
NM_001178063.2:c.686A>T	NP_001171534.1:p.Lys229Met
NM_001282457.1:c.590A>T	NP_001269386.1:p.Lys197Met
NM_001282458.1:c.1241A>T	NP_001269387.1:p.Lys414Met
NM_000063.6:c.1328A>T MANE Select	NP_000054.2:p.Lys443Met
NM_001145903.3:c.932A>T	NP_001139375.1:p.Lys311Met
NM_001282457.2:c.590A>T	NP_001269386.1:p.Lys197Met
NM_001282458.2:c.1241A>T	NP_001269387.1:p.Lys414Met
NM_001178063.3:c.686A>T	NP_001171534.1:p.Lys229Met