Canonical Allele Identifier: CA3727442

Gene: C2

Linked Data

• ClinVar Variation Id: 1442897
• ClinVar RCV Id: RCV001969970
• dbSNP Id: rs147186833
• ExAC: 6:31901558 G / A
• gnomAD v2: 6-31901558-G-A
• gnomAD v3: 6-31933781-G-A
• gnomAD v4: 6-31933781-G-A
• MyVariant Identifiers: chr6:g.31901558G>A (hg19) ; chr6:g.31933781G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31933781G>A , CM000668.2:g.31933781G>A	GRCh38
NC_000006.11:g.31901558G>A , CM000668.1:g.31901558G>A	GRCh37
NC_000006.10:g.32009537G>A	NCBI36
NG_011730.1:g.11293G>A , LRG_26:g.11293G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000447952.7:c.428G>A	ENSP00000391354.3:p.Arg143His
ENST00000452323.7:c.245G>A	ENSP00000392322.2:p.Arg82His
ENST00000468407.2:c.614G>A	ENSP00000512075.1:p.Arg205His
ENST00000497706.6:c.109G>A	ENSP00000417482.2:p.Ala37Thr
ENST00000695637.1:c.209G>A	ENSP00000512074.1:p.Arg70His
ENST00000695638.1:c.614G>A	ENSP00000512076.1:p.Arg205His
ENST00000695639.1:n.334G>A
ENST00000695640.1:n.469G>A
ENST00000695644.1:c.218G>A	ENSP00000512079.1:p.Arg73His
ENST00000299367.10:c.614G>A MANE Select	ENSP00000299367.5:p.Arg205His
ENST00000299367.9:c.614G>A	ENSP00000299367.5:p.Arg205His
ENST00000383177.7:c.208G>A
ENST00000411571.6:c.109G>A	ENSP00000388727.2:p.Ala37Thr
ENST00000418949.6:c.614G>A	ENSP00000406190.2:p.Arg205His
ENST00000442278.6:c.218G>A	ENSP00000395683.2:p.Arg73His
ENST00000447952.6:c.428G>A	ENSP00000391354.2:p.Arg143His
ENST00000452202.5:c.245G>A	ENSP00000406121.1:p.Arg82His
ENST00000452323.6:c.245G>A	ENSP00000392322.2:p.Arg82His
ENST00000456570.5:c.428G>A	ENSP00000410815.1:p.Arg143His
ENST00000469372.5:c.109G>A	ENSP00000418923.1:p.Ala37Thr
ENST00000477310.1:c.443-3538G>A	ENSP00000418996.1:n.443-3538G>A
ENST00000482060.5:c.*327G>A	ENSP00000418332.1:n.*327G>A
ENST00000484636.1:c.109G>A	ENSP00000420305.1:p.Ala37Thr
ENST00000494905.1:c.191G>A	ENSP00000419048.1:p.Arg64His
ENST00000497706.5:c.109G>A	ENSP00000417482.1:p.Ala37Thr
NM_000063.5:c.614G>A	NP_000054.2:p.Arg205His
NM_001145903.2:c.218G>A	NP_001139375.1:p.Arg73His
NM_001178063.2:c.245G>A	NP_001171534.1:p.Arg82His
NM_001282457.1:c.109G>A	NP_001269386.1:p.Ala37Thr
NM_001282458.1:c.527G>A	NP_001269387.1:p.Arg176His
NM_001282459.1:c.614G>A	NP_001269388.1:p.Arg205His
NM_000063.6:c.614G>A MANE Select	NP_000054.2:p.Arg205His
NM_001145903.3:c.218G>A	NP_001139375.1:p.Arg73His
NM_001282457.2:c.109G>A	NP_001269386.1:p.Ala37Thr
NM_001282458.2:c.527G>A	NP_001269387.1:p.Arg176His
NM_001282459.2:c.614G>A	NP_001269388.1:p.Arg205His
NM_001178063.3:c.245G>A	NP_001171534.1:p.Arg82His