Canonical Allele Identifier: CA2678069582

Gene: C2

Linked Data

• gnomAD v4: 6-31933873-A-ACT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31933876_31933877dup , CM000668.2:g.31933876_31933877dup	GRCh38
NC_000006.11:g.31901653_31901654dup , CM000668.1:g.31901653_31901654dup	GRCh37
NC_000006.10:g.32009632_32009633dup	NCBI36
NG_011730.1:g.11388_11389dup , LRG_26:g.11388_11389dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000447952.7:c.440_441dup	ENSP00000391354.3:p.Tyr148LeufsTer?
ENST00000452323.7:c.257_258dup	ENSP00000392322.2:p.Tyr87LeufsTer?
ENST00000468407.2:c.626_627dup	ENSP00000512075.1:p.Tyr210LeufsTer?
ENST00000497706.6:c.121_122dup	ENSP00000417482.2:p.Met42LeufsTer2
ENST00000695637.1:c.221_222dup	ENSP00000512074.1:p.Tyr75LeufsTer?
ENST00000695638.1:c.626_627dup	ENSP00000512076.1:p.Tyr210LeufsTer?
ENST00000695639.1:n.429_430dup
ENST00000695640.1:n.564_565dup
ENST00000695644.1:c.230_231dup	ENSP00000512079.1:p.Tyr78LeufsTer?
ENST00000299367.10:c.626_627dup MANE Select	ENSP00000299367.5:p.Tyr210LeufsTer?
ENST00000299367.9:c.626_627dup	ENSP00000299367.5:p.Tyr210LeufsTer?
ENST00000383177.7:c.220_221dup
ENST00000411571.6:c.121_122dup	ENSP00000388727.2:p.Met42LeufsTer2
ENST00000418949.6:c.626_627dup	ENSP00000406190.2:p.Tyr210LeufsTer?
ENST00000442278.6:c.230_231dup	ENSP00000395683.2:p.Tyr78LeufsTer?
ENST00000447952.6:c.440_441dup	ENSP00000391354.2:p.Tyr148LeufsTer?
ENST00000452202.5:c.257_258dup	ENSP00000406121.1:p.Tyr87LeufsTer?
ENST00000452323.6:c.257_258dup	ENSP00000392322.2:p.Tyr87LeufsTer?
ENST00000456570.5:c.440_441dup	ENSP00000410815.1:p.Tyr148LeufsTer?
ENST00000469372.5:c.111+93_111+94dup	ENSP00000418923.1:n.111+93_111+94dup
ENST00000477310.1:c.443-3443_443-3442dup	ENSP00000418996.1:n.443-3443_443-3442dup
ENST00000482060.5:c.*339_*340dup	ENSP00000418332.1:n.*339_*340dup
ENST00000484636.1:c.121_122dup	ENSP00000420305.1:p.Met42LeufsTer2
ENST00000494905.1:c.203_204dup	ENSP00000419048.1:p.Tyr69LeufsTer?
ENST00000497706.5:c.121_122dup	ENSP00000417482.1:p.Met42LeufsTer2
NM_000063.5:c.626_627dup	NP_000054.2:p.Tyr210LeufsTer?
NM_001145903.2:c.230_231dup	NP_001139375.1:p.Tyr78LeufsTer?
NM_001178063.2:c.257_258dup	NP_001171534.1:p.Tyr87LeufsTer?
NM_001282457.1:c.111+93_111+94dup	NP_001269386.1:n.111+93_111+94dup
NM_001282458.1:c.539_540dup	NP_001269387.1:p.Tyr181LeufsTer?
NM_001282459.1:c.626_627dup	NP_001269388.1:p.Tyr210LeufsTer?
NM_000063.6:c.626_627dup MANE Select	NP_000054.2:p.Tyr210LeufsTer?
NM_001145903.3:c.230_231dup	NP_001139375.1:p.Tyr78LeufsTer?
NM_001282457.2:c.111+93_111+94dup	NP_001269386.1:n.111+93_111+94dup
NM_001282458.2:c.539_540dup	NP_001269387.1:p.Tyr181LeufsTer?
NM_001282459.2:c.626_627dup	NP_001269388.1:p.Tyr210LeufsTer?
NM_001178063.3:c.257_258dup	NP_001171534.1:p.Tyr87LeufsTer?