Canonical Allele Identifier: CA363376288

Gene: C2

Linked Data

• MyVariant Identifiers: chr6:g.31910845G>T (hg19) ; chr6:g.31943068G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31943068G>T , CM000668.2:g.31943068G>T	GRCh38
NC_000006.11:g.31910845G>T , CM000668.1:g.31910845G>T	GRCh37
NC_000006.10:g.32018824G>T	NCBI36
NG_008191.1:g.2125G>T , LRG_136:g.2125G>T
NG_011730.1:g.20580G>T , LRG_26:g.20580G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000447952.7:c.1143G>T	ENSP00000391354.3:p.Lys381Asn
ENST00000452323.7:c.687G>T	ENSP00000392322.2:p.Lys229Asn
ENST00000468407.2:c.1329G>T	ENSP00000512075.1:p.Lys443Asn
ENST00000497706.6:c.690G>T	ENSP00000417482.2:p.Lys230Asn
ENST00000695637.1:c.924G>T	ENSP00000512074.1:p.Lys308Asn
ENST00000695638.1:c.1329G>T	ENSP00000512076.1:p.Lys443Asn
ENST00000695644.1:c.933G>T	ENSP00000512079.1:p.Lys311Asn
ENST00000695645.1:n.699G>T
ENST00000695646.1:n.801G>T
ENST00000299367.10:c.1329G>T MANE Select	ENSP00000299367.5:p.Lys443Asn
ENST00000299367.9:c.1329G>T	ENSP00000299367.5:p.Lys443Asn
ENST00000383177.7:c.650G>T
ENST00000442278.6:c.933G>T	ENSP00000395683.2:p.Lys311Asn
ENST00000452323.6:c.687G>T	ENSP00000392322.2:p.Lys229Asn
ENST00000456570.5:c.870G>T	ENSP00000410815.1:p.Lys290Asn
ENST00000469372.5:c.591G>T	ENSP00000418923.1:p.Lys197Asn
ENST00000477310.1:c.674-157G>T	ENSP00000418996.1:n.674-157G>T
ENST00000482060.5:c.*1042G>T	ENSP00000418332.1:n.*1042G>T
ENST00000485690.5:c.541G>T
ENST00000486124.5:n.1605G>T
ENST00000497706.5:c.690G>T	ENSP00000417482.1:p.Lys230Asn
NM_000063.5:c.1329G>T	NP_000054.2:p.Lys443Asn
NM_001145903.2:c.933G>T	NP_001139375.1:p.Lys311Asn
NM_001178063.2:c.687G>T	NP_001171534.1:p.Lys229Asn
NM_001282457.1:c.591G>T	NP_001269386.1:p.Lys197Asn
NM_001282458.1:c.1242G>T	NP_001269387.1:p.Lys414Asn
NM_000063.6:c.1329G>T MANE Select	NP_000054.2:p.Lys443Asn
NM_001145903.3:c.933G>T	NP_001139375.1:p.Lys311Asn
NM_001282457.2:c.591G>T	NP_001269386.1:p.Lys197Asn
NM_001282458.2:c.1242G>T	NP_001269387.1:p.Lys414Asn
NM_001178063.3:c.687G>T	NP_001171534.1:p.Lys229Asn