Canonical Allele Identifier: CA3727441

Gene: C2

Linked Data

• ClinVar Variation Id: 1699762
• ClinVar RCV Id: RCV002273619
• dbSNP Id: rs770315100
• ExAC: 6:31901557 C / T
• gnomAD v2: 6-31901557-C-T
• gnomAD v4: 6-31933780-C-T
• COSMIC: COSM3624861
• MyVariant Identifiers: chr6:g.31901557C>T (hg19) ; chr6:g.31933780C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31933780C>T , CM000668.2:g.31933780C>T	GRCh38
NC_000006.11:g.31901557C>T , CM000668.1:g.31901557C>T	GRCh37
NC_000006.10:g.32009536C>T	NCBI36
NG_011730.1:g.11292C>T , LRG_26:g.11292C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000447952.7:c.427C>T	ENSP00000391354.3:p.Arg143Cys
ENST00000452323.7:c.244C>T	ENSP00000392322.2:p.Arg82Cys
ENST00000468407.2:c.613C>T	ENSP00000512075.1:p.Arg205Cys
ENST00000497706.6:c.108C>T	ENSP00000417482.2:p.Ala36=
ENST00000695637.1:c.208C>T	ENSP00000512074.1:p.Arg70Cys
ENST00000695638.1:c.613C>T	ENSP00000512076.1:p.Arg205Cys
ENST00000695639.1:n.333C>T
ENST00000695640.1:n.468C>T
ENST00000695644.1:c.217C>T	ENSP00000512079.1:p.Arg73Cys
ENST00000299367.10:c.613C>T MANE Select	ENSP00000299367.5:p.Arg205Cys
ENST00000299367.9:c.613C>T	ENSP00000299367.5:p.Arg205Cys
ENST00000383177.7:c.207C>T
ENST00000411571.6:c.108C>T	ENSP00000388727.2:p.Ala36=
ENST00000418949.6:c.613C>T	ENSP00000406190.2:p.Arg205Cys
ENST00000442278.6:c.217C>T	ENSP00000395683.2:p.Arg73Cys
ENST00000447952.6:c.427C>T	ENSP00000391354.2:p.Arg143Cys
ENST00000452202.5:c.244C>T	ENSP00000406121.1:p.Arg82Cys
ENST00000452323.6:c.244C>T	ENSP00000392322.2:p.Arg82Cys
ENST00000456570.5:c.427C>T	ENSP00000410815.1:p.Arg143Cys
ENST00000469372.5:c.108C>T	ENSP00000418923.1:p.Ala36=
ENST00000477310.1:c.443-3539C>T	ENSP00000418996.1:n.443-3539C>T
ENST00000482060.5:c.*326C>T	ENSP00000418332.1:n.*326C>T
ENST00000484636.1:c.108C>T	ENSP00000420305.1:p.Ala36=
ENST00000494905.1:c.190C>T	ENSP00000419048.1:p.Arg64Cys
ENST00000497706.5:c.108C>T	ENSP00000417482.1:p.Ala36=
NM_000063.5:c.613C>T	NP_000054.2:p.Arg205Cys
NM_001145903.2:c.217C>T	NP_001139375.1:p.Arg73Cys
NM_001178063.2:c.244C>T	NP_001171534.1:p.Arg82Cys
NM_001282457.1:c.108C>T	NP_001269386.1:p.Ala36=
NM_001282458.1:c.526C>T	NP_001269387.1:p.Arg176Cys
NM_001282459.1:c.613C>T	NP_001269388.1:p.Arg205Cys
NM_000063.6:c.613C>T MANE Select	NP_000054.2:p.Arg205Cys
NM_001145903.3:c.217C>T	NP_001139375.1:p.Arg73Cys
NM_001282457.2:c.108C>T	NP_001269386.1:p.Ala36=
NM_001282458.2:c.526C>T	NP_001269387.1:p.Arg176Cys
NM_001282459.2:c.613C>T	NP_001269388.1:p.Arg205Cys
NM_001178063.3:c.244C>T	NP_001171534.1:p.Arg82Cys