Canonical Allele Identifier: CA566692591

Gene: C2

Linked Data

• dbSNP Id: rs1386913744
• gnomAD v2: 6-31901635-T-TC
• gnomAD v4: 6-31933858-T-TC
• MyVariant Identifiers: chr6:g.31901635_31901636insC (hg19) ; chr6:g.31933858_31933859insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31933862dup , CM000668.2:g.31933862dup	GRCh38
NC_000006.11:g.31901639dup , CM000668.1:g.31901639dup	GRCh37
NC_000006.10:g.32009618dup	NCBI36
NG_011730.1:g.11374dup , LRG_26:g.11374dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447952.7:c.431-5dup	ENSP00000391354.3:n.431-5dup
ENST00000452323.7:c.248-5dup	ENSP00000392322.2:n.248-5dup
ENST00000468407.2:c.617-5dup	ENSP00000512075.1:n.617-5dup
ENST00000497706.6:c.112-5dup	ENSP00000417482.2:n.112-5dup
ENST00000695637.1:c.212-5dup	ENSP00000512074.1:n.212-5dup
ENST00000695638.1:c.617-5dup	ENSP00000512076.1:n.617-5dup
ENST00000695639.1:n.415dup
ENST00000695640.1:n.550dup
ENST00000695644.1:c.221-5dup	ENSP00000512079.1:n.221-5dup
ENST00000299367.10:c.617-5dup MANE Select	ENSP00000299367.5:n.617-5dup
ENST00000299367.9:c.617-5dup	ENSP00000299367.5:n.617-5dup
ENST00000383177.7:c.211-5dup
ENST00000411571.6:c.112-5dup	ENSP00000388727.2:n.112-5dup
ENST00000418949.6:c.617-5dup	ENSP00000406190.2:n.617-5dup
ENST00000442278.6:c.221-5dup	ENSP00000395683.2:n.221-5dup
ENST00000447952.6:c.431-5dup	ENSP00000391354.2:n.431-5dup
ENST00000452202.5:c.248-5dup	ENSP00000406121.1:n.248-5dup
ENST00000452323.6:c.248-5dup	ENSP00000392322.2:n.248-5dup
ENST00000456570.5:c.431-5dup	ENSP00000410815.1:n.431-5dup
ENST00000469372.5:c.111+79dup	ENSP00000418923.1:n.111+79dup
ENST00000477310.1:c.443-3457dup	ENSP00000418996.1:n.443-3457dup
ENST00000482060.5:c.*330-5dup	ENSP00000418332.1:n.*330-5dup
ENST00000484636.1:c.112-5dup	ENSP00000420305.1:n.112-5dup
ENST00000494905.1:c.194-5dup	ENSP00000419048.1:n.194-5dup
ENST00000497706.5:c.112-5dup	ENSP00000417482.1:n.112-5dup
NM_000063.5:c.617-5dup	NP_000054.2:n.617-5dup
NM_001145903.2:c.221-5dup	NP_001139375.1:n.221-5dup
NM_001178063.2:c.248-5dup	NP_001171534.1:n.248-5dup
NM_001282457.1:c.111+79dup	NP_001269386.1:n.111+79dup
NM_001282458.1:c.530-5dup	NP_001269387.1:n.530-5dup
NM_001282459.1:c.617-5dup	NP_001269388.1:n.617-5dup
NM_000063.6:c.617-5dup MANE Select	NP_000054.2:n.617-5dup
NM_001145903.3:c.221-5dup	NP_001139375.1:n.221-5dup
NM_001282457.2:c.111+79dup	NP_001269386.1:n.111+79dup
NM_001282458.2:c.530-5dup	NP_001269387.1:n.530-5dup
NM_001282459.2:c.617-5dup	NP_001269388.1:n.617-5dup
NM_001178063.3:c.248-5dup	NP_001171534.1:n.248-5dup