Canonical Allele Identifier: CA136929229

Gene: C2

Linked Data

• dbSNP Id: rs900164037
• MyVariant Identifiers: chr6:g.31901645A>T (hg19) ; chr6:g.31933868A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31933868A>T , CM000668.2:g.31933868A>T	GRCh38
NC_000006.11:g.31901645A>T , CM000668.1:g.31901645A>T	GRCh37
NC_000006.10:g.32009624A>T	NCBI36
NG_011730.1:g.11380A>T , LRG_26:g.11380A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447952.7:c.432A>T	ENSP00000391354.3:p.Gln144His
ENST00000452323.7:c.249A>T	ENSP00000392322.2:p.Gln83His
ENST00000468407.2:c.618A>T	ENSP00000512075.1:p.Gln206His
ENST00000497706.6:c.113A>T	ENSP00000417482.2:p.Asn38Ile
ENST00000695637.1:c.213A>T	ENSP00000512074.1:p.Gln71His
ENST00000695638.1:c.618A>T	ENSP00000512076.1:p.Gln206His
ENST00000695639.1:n.421A>T
ENST00000695640.1:n.556A>T
ENST00000695644.1:c.222A>T	ENSP00000512079.1:p.Gln74His
ENST00000299367.10:c.618A>T MANE Select	ENSP00000299367.5:p.Gln206His
ENST00000299367.9:c.618A>T	ENSP00000299367.5:p.Gln206His
ENST00000383177.7:c.212A>T
ENST00000411571.6:c.113A>T	ENSP00000388727.2:p.Asn38Ile
ENST00000418949.6:c.618A>T	ENSP00000406190.2:p.Gln206His
ENST00000442278.6:c.222A>T	ENSP00000395683.2:p.Gln74His
ENST00000447952.6:c.432A>T	ENSP00000391354.2:p.Gln144His
ENST00000452202.5:c.249A>T	ENSP00000406121.1:p.Gln83His
ENST00000452323.6:c.249A>T	ENSP00000392322.2:p.Gln83His
ENST00000456570.5:c.432A>T	ENSP00000410815.1:p.Gln144His
ENST00000469372.5:c.111+85A>T	ENSP00000418923.1:n.111+85A>T
ENST00000477310.1:c.443-3451A>T	ENSP00000418996.1:n.443-3451A>T
ENST00000482060.5:c.*331A>T	ENSP00000418332.1:n.*331A>T
ENST00000484636.1:c.113A>T	ENSP00000420305.1:p.Asn38Ile
ENST00000494905.1:c.195A>T	ENSP00000419048.1:p.Gln65His
ENST00000497706.5:c.113A>T	ENSP00000417482.1:p.Asn38Ile
NM_000063.5:c.618A>T	NP_000054.2:p.Gln206His
NM_001145903.2:c.222A>T	NP_001139375.1:p.Gln74His
NM_001178063.2:c.249A>T	NP_001171534.1:p.Gln83His
NM_001282457.1:c.111+85A>T	NP_001269386.1:n.111+85A>T
NM_001282458.1:c.531A>T	NP_001269387.1:p.Gln177His
NM_001282459.1:c.618A>T	NP_001269388.1:p.Gln206His
NM_000063.6:c.618A>T MANE Select	NP_000054.2:p.Gln206His
NM_001145903.3:c.222A>T	NP_001139375.1:p.Gln74His
NM_001282457.2:c.111+85A>T	NP_001269386.1:n.111+85A>T
NM_001282458.2:c.531A>T	NP_001269387.1:p.Gln177His
NM_001282459.2:c.618A>T	NP_001269388.1:p.Gln206His
NM_001178063.3:c.249A>T	NP_001171534.1:p.Gln83His