Canonical Allele Identifier: CA363497048

Gene: C2

Linked Data

• gnomAD v4: 6-31933879-A-G
• MyVariant Identifiers: chr6:g.31901656A>G (hg19) ; chr6:g.31933879A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31933879A>G , CM000668.2:g.31933879A>G	GRCh38
NC_000006.11:g.31901656A>G , CM000668.1:g.31901656A>G	GRCh37
NC_000006.10:g.32009635A>G	NCBI36
NG_011730.1:g.11391A>G , LRG_26:g.11391A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000447952.7:c.443A>G	ENSP00000391354.3:p.Tyr148Cys
ENST00000452323.7:c.260A>G	ENSP00000392322.2:p.Tyr87Cys
ENST00000468407.2:c.629A>G	ENSP00000512075.1:p.Tyr210Cys
ENST00000497706.6:c.124A>G	ENSP00000417482.2:p.Met42Val
ENST00000695637.1:c.224A>G	ENSP00000512074.1:p.Tyr75Cys
ENST00000695638.1:c.629A>G	ENSP00000512076.1:p.Tyr210Cys
ENST00000695639.1:n.432A>G
ENST00000695640.1:n.567A>G
ENST00000695644.1:c.233A>G	ENSP00000512079.1:p.Tyr78Cys
ENST00000299367.10:c.629A>G MANE Select	ENSP00000299367.5:p.Tyr210Cys
ENST00000299367.9:c.629A>G	ENSP00000299367.5:p.Tyr210Cys
ENST00000383177.7:c.223A>G
ENST00000411571.6:c.124A>G	ENSP00000388727.2:p.Met42Val
ENST00000418949.6:c.629A>G	ENSP00000406190.2:p.Tyr210Cys
ENST00000442278.6:c.233A>G	ENSP00000395683.2:p.Tyr78Cys
ENST00000447952.6:c.443A>G	ENSP00000391354.2:p.Tyr148Cys
ENST00000452202.5:c.260A>G	ENSP00000406121.1:p.Tyr87Cys
ENST00000452323.6:c.260A>G	ENSP00000392322.2:p.Tyr87Cys
ENST00000456570.5:c.443A>G	ENSP00000410815.1:p.Tyr148Cys
ENST00000469372.5:c.111+96A>G	ENSP00000418923.1:n.111+96A>G
ENST00000477310.1:c.443-3440A>G	ENSP00000418996.1:n.443-3440A>G
ENST00000482060.5:c.*342A>G	ENSP00000418332.1:n.*342A>G
ENST00000484636.1:c.124A>G	ENSP00000420305.1:p.Met42Val
ENST00000494905.1:c.206A>G	ENSP00000419048.1:p.Tyr69Cys
ENST00000497706.5:c.124A>G	ENSP00000417482.1:p.Met42Val
NM_000063.5:c.629A>G	NP_000054.2:p.Tyr210Cys
NM_001145903.2:c.233A>G	NP_001139375.1:p.Tyr78Cys
NM_001178063.2:c.260A>G	NP_001171534.1:p.Tyr87Cys
NM_001282457.1:c.111+96A>G	NP_001269386.1:n.111+96A>G
NM_001282458.1:c.542A>G	NP_001269387.1:p.Tyr181Cys
NM_001282459.1:c.629A>G	NP_001269388.1:p.Tyr210Cys
NM_000063.6:c.629A>G MANE Select	NP_000054.2:p.Tyr210Cys
NM_001145903.3:c.233A>G	NP_001139375.1:p.Tyr78Cys
NM_001282457.2:c.111+96A>G	NP_001269386.1:n.111+96A>G
NM_001282458.2:c.542A>G	NP_001269387.1:p.Tyr181Cys
NM_001282459.2:c.629A>G	NP_001269388.1:p.Tyr210Cys
NM_001178063.3:c.260A>G	NP_001171534.1:p.Tyr87Cys