Canonical Allele Identifier: CA363496948

Gene: C2

Linked Data

• MyVariant Identifiers: chr6:g.31901644A>T (hg19) ; chr6:g.31933867A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31933867A>T , CM000668.2:g.31933867A>T	GRCh38
NC_000006.11:g.31901644A>T , CM000668.1:g.31901644A>T	GRCh37
NC_000006.10:g.32009623A>T	NCBI36
NG_011730.1:g.11379A>T , LRG_26:g.11379A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447952.7:c.431A>T	ENSP00000391354.3:p.Gln144Leu
ENST00000452323.7:c.248A>T	ENSP00000392322.2:p.Gln83Leu
ENST00000468407.2:c.617A>T	ENSP00000512075.1:p.Gln206Leu
ENST00000497706.6:c.112A>T	ENSP00000417482.2:p.Asn38Tyr
ENST00000695637.1:c.212A>T	ENSP00000512074.1:p.Gln71Leu
ENST00000695638.1:c.617A>T	ENSP00000512076.1:p.Gln206Leu
ENST00000695639.1:n.420A>T
ENST00000695640.1:n.555A>T
ENST00000695644.1:c.221A>T	ENSP00000512079.1:p.Gln74Leu
ENST00000299367.10:c.617A>T MANE Select	ENSP00000299367.5:p.Gln206Leu
ENST00000299367.9:c.617A>T	ENSP00000299367.5:p.Gln206Leu
ENST00000383177.7:c.211A>T
ENST00000411571.6:c.112A>T	ENSP00000388727.2:p.Asn38Tyr
ENST00000418949.6:c.617A>T	ENSP00000406190.2:p.Gln206Leu
ENST00000442278.6:c.221A>T	ENSP00000395683.2:p.Gln74Leu
ENST00000447952.6:c.431A>T	ENSP00000391354.2:p.Gln144Leu
ENST00000452202.5:c.248A>T	ENSP00000406121.1:p.Gln83Leu
ENST00000452323.6:c.248A>T	ENSP00000392322.2:p.Gln83Leu
ENST00000456570.5:c.431A>T	ENSP00000410815.1:p.Gln144Leu
ENST00000469372.5:c.111+84A>T	ENSP00000418923.1:n.111+84A>T
ENST00000477310.1:c.443-3452A>T	ENSP00000418996.1:n.443-3452A>T
ENST00000482060.5:c.*330A>T	ENSP00000418332.1:n.*330A>T
ENST00000484636.1:c.112A>T	ENSP00000420305.1:p.Asn38Tyr
ENST00000494905.1:c.194A>T	ENSP00000419048.1:p.Gln65Leu
ENST00000497706.5:c.112A>T	ENSP00000417482.1:p.Asn38Tyr
NM_000063.5:c.617A>T	NP_000054.2:p.Gln206Leu
NM_001145903.2:c.221A>T	NP_001139375.1:p.Gln74Leu
NM_001178063.2:c.248A>T	NP_001171534.1:p.Gln83Leu
NM_001282457.1:c.111+84A>T	NP_001269386.1:n.111+84A>T
NM_001282458.1:c.530A>T	NP_001269387.1:p.Gln177Leu
NM_001282459.1:c.617A>T	NP_001269388.1:p.Gln206Leu
NM_000063.6:c.617A>T MANE Select	NP_000054.2:p.Gln206Leu
NM_001145903.3:c.221A>T	NP_001139375.1:p.Gln74Leu
NM_001282457.2:c.111+84A>T	NP_001269386.1:n.111+84A>T
NM_001282458.2:c.530A>T	NP_001269387.1:p.Gln177Leu
NM_001282459.2:c.617A>T	NP_001269388.1:p.Gln206Leu
NM_001178063.3:c.248A>T	NP_001171534.1:p.Gln83Leu