Canonical Allele Identifier: CA363496127

Gene: C2

Linked Data

• MyVariant Identifiers: chr6:g.31901483A>C (hg19) ; chr6:g.31933706A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31933706A>C , CM000668.2:g.31933706A>C	GRCh38
NC_000006.11:g.31901483A>C , CM000668.1:g.31901483A>C	GRCh37
NC_000006.10:g.32009462A>C	NCBI36
NG_011730.1:g.11218A>C , LRG_26:g.11218A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447952.7:c.353A>C	ENSP00000391354.3:p.Asn118Thr
ENST00000452323.7:c.170A>C	ENSP00000392322.2:p.Asn57Thr
ENST00000468407.2:c.539A>C	ENSP00000512075.1:p.Asn180Thr
ENST00000497706.6:c.34A>C	ENSP00000417482.2:p.Ile12Leu
ENST00000695637.1:c.134A>C	ENSP00000512074.1:p.Asn45Thr
ENST00000695638.1:c.539A>C	ENSP00000512076.1:p.Asn180Thr
ENST00000695639.1:n.259A>C
ENST00000695640.1:n.394A>C
ENST00000695644.1:c.143A>C	ENSP00000512079.1:p.Asn48Thr
ENST00000299367.10:c.539A>C MANE Select	ENSP00000299367.5:p.Asn180Thr
ENST00000299367.9:c.539A>C	ENSP00000299367.5:p.Asn180Thr
ENST00000383177.7:c.133A>C
ENST00000411571.6:c.34A>C	ENSP00000388727.2:p.Ile12Leu
ENST00000418949.6:c.539A>C	ENSP00000406190.2:p.Asn180Thr
ENST00000442278.6:c.143A>C	ENSP00000395683.2:p.Asn48Thr
ENST00000447952.6:c.353A>C	ENSP00000391354.2:p.Asn118Thr
ENST00000452202.5:c.170A>C	ENSP00000406121.1:p.Asn57Thr
ENST00000452323.6:c.170A>C	ENSP00000392322.2:p.Asn57Thr
ENST00000456570.5:c.353A>C	ENSP00000410815.1:p.Asn118Thr
ENST00000469372.5:c.34A>C	ENSP00000418923.1:p.Ile12Leu
ENST00000477310.1:c.443-3613A>C	ENSP00000418996.1:n.443-3613A>C
ENST00000482060.5:c.*252A>C	ENSP00000418332.1:n.*252A>C
ENST00000484636.1:c.34A>C	ENSP00000420305.1:p.Ile12Leu
ENST00000494905.1:c.116A>C	ENSP00000419048.1:p.Asn39Thr
ENST00000497706.5:c.34A>C	ENSP00000417482.1:p.Ile12Leu
NM_000063.5:c.539A>C	NP_000054.2:p.Asn180Thr
NM_001145903.2:c.143A>C	NP_001139375.1:p.Asn48Thr
NM_001178063.2:c.170A>C	NP_001171534.1:p.Asn57Thr
NM_001282457.1:c.34A>C	NP_001269386.1:p.Ile12Leu
NM_001282458.1:c.452A>C	NP_001269387.1:p.Asn151Thr
NM_001282459.1:c.539A>C	NP_001269388.1:p.Asn180Thr
NM_000063.6:c.539A>C MANE Select	NP_000054.2:p.Asn180Thr
NM_001145903.3:c.143A>C	NP_001139375.1:p.Asn48Thr
NM_001282457.2:c.34A>C	NP_001269386.1:p.Ile12Leu
NM_001282458.2:c.452A>C	NP_001269387.1:p.Asn151Thr
NM_001282459.2:c.539A>C	NP_001269388.1:p.Asn180Thr
NM_001178063.3:c.170A>C	NP_001171534.1:p.Asn57Thr