Canonical Allele Identifier: CA363496693

Gene: C2

Linked Data

• MyVariant Identifiers: chr6:g.31901542A>T (hg19) ; chr6:g.31933765A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31933765A>T , CM000668.2:g.31933765A>T	GRCh38
NC_000006.11:g.31901542A>T , CM000668.1:g.31901542A>T	GRCh37
NC_000006.10:g.32009521A>T	NCBI36
NG_011730.1:g.11277A>T , LRG_26:g.11277A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447952.7:c.412A>T	ENSP00000391354.3:p.Thr138Ser
ENST00000452323.7:c.229A>T	ENSP00000392322.2:p.Thr77Ser
ENST00000468407.2:c.598A>T	ENSP00000512075.1:p.Thr200Ser
ENST00000497706.6:c.93A>T	ENSP00000417482.2:p.Glu31Asp
ENST00000695637.1:c.193A>T	ENSP00000512074.1:p.Thr65Ser
ENST00000695638.1:c.598A>T	ENSP00000512076.1:p.Thr200Ser
ENST00000695639.1:n.318A>T
ENST00000695640.1:n.453A>T
ENST00000695644.1:c.202A>T	ENSP00000512079.1:p.Thr68Ser
ENST00000299367.10:c.598A>T MANE Select	ENSP00000299367.5:p.Thr200Ser
ENST00000299367.9:c.598A>T	ENSP00000299367.5:p.Thr200Ser
ENST00000383177.7:c.192A>T
ENST00000411571.6:c.93A>T	ENSP00000388727.2:p.Glu31Asp
ENST00000418949.6:c.598A>T	ENSP00000406190.2:p.Thr200Ser
ENST00000442278.6:c.202A>T	ENSP00000395683.2:p.Thr68Ser
ENST00000447952.6:c.412A>T	ENSP00000391354.2:p.Thr138Ser
ENST00000452202.5:c.229A>T	ENSP00000406121.1:p.Thr77Ser
ENST00000452323.6:c.229A>T	ENSP00000392322.2:p.Thr77Ser
ENST00000456570.5:c.412A>T	ENSP00000410815.1:p.Thr138Ser
ENST00000469372.5:c.93A>T	ENSP00000418923.1:p.Glu31Asp
ENST00000477310.1:c.443-3554A>T	ENSP00000418996.1:n.443-3554A>T
ENST00000482060.5:c.*311A>T	ENSP00000418332.1:n.*311A>T
ENST00000484636.1:c.93A>T	ENSP00000420305.1:p.Glu31Asp
ENST00000494905.1:c.175A>T	ENSP00000419048.1:p.Thr59Ser
ENST00000497706.5:c.93A>T	ENSP00000417482.1:p.Glu31Asp
NM_000063.5:c.598A>T	NP_000054.2:p.Thr200Ser
NM_001145903.2:c.202A>T	NP_001139375.1:p.Thr68Ser
NM_001178063.2:c.229A>T	NP_001171534.1:p.Thr77Ser
NM_001282457.1:c.93A>T	NP_001269386.1:p.Glu31Asp
NM_001282458.1:c.511A>T	NP_001269387.1:p.Thr171Ser
NM_001282459.1:c.598A>T	NP_001269388.1:p.Thr200Ser
NM_000063.6:c.598A>T MANE Select	NP_000054.2:p.Thr200Ser
NM_001145903.3:c.202A>T	NP_001139375.1:p.Thr68Ser
NM_001282457.2:c.93A>T	NP_001269386.1:p.Glu31Asp
NM_001282458.2:c.511A>T	NP_001269387.1:p.Thr171Ser
NM_001282459.2:c.598A>T	NP_001269388.1:p.Thr200Ser
NM_001178063.3:c.229A>T	NP_001171534.1:p.Thr77Ser