Canonical Allele Identifier: CA363368309

Gene: C2

Linked Data

• MyVariant Identifiers: chr6:g.31902081G>T (hg19) ; chr6:g.31934304G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31934304G>T , CM000668.2:g.31934304G>T	GRCh38
NC_000006.11:g.31902081G>T , CM000668.1:g.31902081G>T	GRCh37
NC_000006.10:g.32010060G>T	NCBI36
NG_011730.1:g.11816G>T , LRG_26:g.11816G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447952.7:c.663+5G>T	ENSP00000391354.3:n.663+5G>T
ENST00000452323.7:c.346+339G>T	ENSP00000392322.2:n.346+339G>T
ENST00000468407.2:c.849+5G>T	ENSP00000512075.1:n.849+5G>T
ENST00000497706.6:c.210+339G>T	ENSP00000417482.2:n.210+339G>T
ENST00000695637.1:c.444+5G>T	ENSP00000512074.1:n.444+5G>T
ENST00000695638.1:c.849+5G>T	ENSP00000512076.1:n.849+5G>T
ENST00000695644.1:c.453+5G>T	ENSP00000512079.1:n.453+5G>T
ENST00000299367.10:c.849+5G>T MANE Select	ENSP00000299367.5:n.849+5G>T
ENST00000299367.9:c.849+5G>T	ENSP00000299367.5:n.849+5G>T
ENST00000383177.7:c.309+339G>T
ENST00000411571.6:c.*89+5G>T	ENSP00000388727.2:n.*89+5G>T
ENST00000418949.6:c.854G>T	ENSP00000406190.2:p.Arg285Met
ENST00000442278.6:c.453+5G>T	ENSP00000395683.2:n.453+5G>T
ENST00000452323.6:c.346+339G>T	ENSP00000392322.2:n.346+339G>T
ENST00000456570.5:c.529+339G>T	ENSP00000410815.1:n.529+339G>T
ENST00000469372.5:c.111+521G>T	ENSP00000418923.1:n.111+521G>T
ENST00000477310.1:c.443-3015G>T	ENSP00000418996.1:n.443-3015G>T
ENST00000482060.5:c.*562+5G>T	ENSP00000418332.1:n.*562+5G>T
ENST00000484636.1:c.*89+5G>T	ENSP00000420305.1:n.*89+5G>T
ENST00000485690.5:c.17+5G>T
ENST00000497706.5:c.210+339G>T	ENSP00000417482.1:n.210+339G>T
NM_000063.5:c.849+5G>T	NP_000054.2:n.849+5G>T
NM_001145903.2:c.453+5G>T	NP_001139375.1:n.453+5G>T
NM_001178063.2:c.346+339G>T	NP_001171534.1:n.346+339G>T
NM_001282457.1:c.111+521G>T	NP_001269386.1:n.111+521G>T
NM_001282458.1:c.762+5G>T	NP_001269387.1:n.762+5G>T
NM_001282459.1:c.854G>T	NP_001269388.1:p.Arg285Met
NM_000063.6:c.849+5G>T MANE Select	NP_000054.2:n.849+5G>T
NM_001145903.3:c.453+5G>T	NP_001139375.1:n.453+5G>T
NM_001282457.2:c.111+521G>T	NP_001269386.1:n.111+521G>T
NM_001282458.2:c.762+5G>T	NP_001269387.1:n.762+5G>T
NM_001282459.2:c.854G>T	NP_001269388.1:p.Arg285Met
NM_001178063.3:c.346+339G>T	NP_001171534.1:n.346+339G>T