Canonical Allele Identifier: CA3727438

Gene: C2

Linked Data

• dbSNP Id: rs771778366
• ExAC: 6:31901538 T / G
• gnomAD v2: 6-31901538-T-G
• gnomAD v4: 6-31933761-T-G
• MyVariant Identifiers: chr6:g.31901538T>G (hg19) ; chr6:g.31933761T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31933761T>G , CM000668.2:g.31933761T>G	GRCh38
NC_000006.11:g.31901538T>G , CM000668.1:g.31901538T>G	GRCh37
NC_000006.10:g.32009517T>G	NCBI36
NG_011730.1:g.11273T>G , LRG_26:g.11273T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447952.7:c.408T>G	ENSP00000391354.3:p.Ser136Arg
ENST00000452323.7:c.225T>G	ENSP00000392322.2:p.Ser75Arg
ENST00000468407.2:c.594T>G	ENSP00000512075.1:p.Ser198Arg
ENST00000497706.6:c.89T>G	ENSP00000417482.2:p.Val30Gly
ENST00000695637.1:c.189T>G	ENSP00000512074.1:p.Ser63Arg
ENST00000695638.1:c.594T>G	ENSP00000512076.1:p.Ser198Arg
ENST00000695639.1:n.314T>G
ENST00000695640.1:n.449T>G
ENST00000695644.1:c.198T>G	ENSP00000512079.1:p.Ser66Arg
ENST00000299367.10:c.594T>G MANE Select	ENSP00000299367.5:p.Ser198Arg
ENST00000299367.9:c.594T>G	ENSP00000299367.5:p.Ser198Arg
ENST00000383177.7:c.188T>G
ENST00000411571.6:c.89T>G	ENSP00000388727.2:p.Val30Gly
ENST00000418949.6:c.594T>G	ENSP00000406190.2:p.Ser198Arg
ENST00000442278.6:c.198T>G	ENSP00000395683.2:p.Ser66Arg
ENST00000447952.6:c.408T>G	ENSP00000391354.2:p.Ser136Arg
ENST00000452202.5:c.225T>G	ENSP00000406121.1:p.Ser75Arg
ENST00000452323.6:c.225T>G	ENSP00000392322.2:p.Ser75Arg
ENST00000456570.5:c.408T>G	ENSP00000410815.1:p.Ser136Arg
ENST00000469372.5:c.89T>G	ENSP00000418923.1:p.Val30Gly
ENST00000477310.1:c.443-3558T>G	ENSP00000418996.1:n.443-3558T>G
ENST00000482060.5:c.*307T>G	ENSP00000418332.1:n.*307T>G
ENST00000484636.1:c.89T>G	ENSP00000420305.1:p.Val30Gly
ENST00000494905.1:c.171T>G	ENSP00000419048.1:p.Ser57Arg
ENST00000497706.5:c.89T>G	ENSP00000417482.1:p.Val30Gly
NM_000063.5:c.594T>G	NP_000054.2:p.Ser198Arg
NM_001145903.2:c.198T>G	NP_001139375.1:p.Ser66Arg
NM_001178063.2:c.225T>G	NP_001171534.1:p.Ser75Arg
NM_001282457.1:c.89T>G	NP_001269386.1:p.Val30Gly
NM_001282458.1:c.507T>G	NP_001269387.1:p.Ser169Arg
NM_001282459.1:c.594T>G	NP_001269388.1:p.Ser198Arg
NM_000063.6:c.594T>G MANE Select	NP_000054.2:p.Ser198Arg
NM_001145903.3:c.198T>G	NP_001139375.1:p.Ser66Arg
NM_001282457.2:c.89T>G	NP_001269386.1:p.Val30Gly
NM_001282458.2:c.507T>G	NP_001269387.1:p.Ser169Arg
NM_001282459.2:c.594T>G	NP_001269388.1:p.Ser198Arg
NM_001178063.3:c.225T>G	NP_001171534.1:p.Ser75Arg