Canonical Allele Identifier: CA363496802
Gene: C2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31933777T>G , CM000668.2:g.31933777T>G GRCh38
NC_000006.11:g.31901554T>G , CM000668.1:g.31901554T>G GRCh37
NC_000006.10:g.32009533T>G NCBI36
NG_011730.1:g.11289T>G , LRG_26:g.11289T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000447952.7:c.424T>G ENSP00000391354.3:p.Cys142Gly
ENST00000452323.7:c.241T>G ENSP00000392322.2:p.Cys81Gly
ENST00000468407.2:c.610T>G ENSP00000512075.1:p.Cys204Gly
ENST00000497706.6:c.105T>G ENSP00000417482.2:p.Ser35=
ENST00000695637.1:c.205T>G ENSP00000512074.1:p.Cys69Gly
ENST00000695638.1:c.610T>G ENSP00000512076.1:p.Cys204Gly
ENST00000695639.1:n.330T>G
ENST00000695640.1:n.465T>G
ENST00000695644.1:c.214T>G ENSP00000512079.1:p.Cys72Gly
ENST00000299367.10:c.610T>G MANE Select ENSP00000299367.5:p.Cys204Gly
ENST00000299367.9:c.610T>G ENSP00000299367.5:p.Cys204Gly
ENST00000383177.7:c.204T>G
ENST00000411571.6:c.105T>G ENSP00000388727.2:p.Ser35=
ENST00000418949.6:c.610T>G ENSP00000406190.2:p.Cys204Gly
ENST00000442278.6:c.214T>G ENSP00000395683.2:p.Cys72Gly
ENST00000447952.6:c.424T>G ENSP00000391354.2:p.Cys142Gly
ENST00000452202.5:c.241T>G ENSP00000406121.1:p.Cys81Gly
ENST00000452323.6:c.241T>G ENSP00000392322.2:p.Cys81Gly
ENST00000456570.5:c.424T>G ENSP00000410815.1:p.Cys142Gly
ENST00000469372.5:c.105T>G ENSP00000418923.1:p.Ser35=
ENST00000477310.1:c.443-3542T>G ENSP00000418996.1:n.443-3542T>G
ENST00000482060.5:c.*323T>G ENSP00000418332.1:n.*323T>G
ENST00000484636.1:c.105T>G ENSP00000420305.1:p.Ser35=
ENST00000494905.1:c.187T>G ENSP00000419048.1:p.Cys63Gly
ENST00000497706.5:c.105T>G ENSP00000417482.1:p.Ser35=
NM_000063.5:c.610T>G NP_000054.2:p.Cys204Gly
NM_001145903.2:c.214T>G NP_001139375.1:p.Cys72Gly
NM_001178063.2:c.241T>G NP_001171534.1:p.Cys81Gly
NM_001282457.1:c.105T>G NP_001269386.1:p.Ser35=
NM_001282458.1:c.523T>G NP_001269387.1:p.Cys175Gly
NM_001282459.1:c.610T>G NP_001269388.1:p.Cys204Gly
NM_000063.6:c.610T>G MANE Select NP_000054.2:p.Cys204Gly
NM_001145903.3:c.214T>G NP_001139375.1:p.Cys72Gly
NM_001282457.2:c.105T>G NP_001269386.1:p.Ser35=
NM_001282458.2:c.523T>G NP_001269387.1:p.Cys175Gly
NM_001282459.2:c.610T>G NP_001269388.1:p.Cys204Gly
NM_001178063.3:c.241T>G NP_001171534.1:p.Cys81Gly