Canonical Allele Identifier: CA3727458

Gene: C2

Linked Data

• dbSNP Id: rs372423916
• ExAC: 6:31901657 T / C
• gnomAD v3: 6-31933880-T-C
• gnomAD v4: 6-31933880-T-C
• MyVariant Identifiers: chr6:g.31901657T>C (hg19) ; chr6:g.31933880T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31933880T>C , CM000668.2:g.31933880T>C	GRCh38
NC_000006.11:g.31901657T>C , CM000668.1:g.31901657T>C	GRCh37
NC_000006.10:g.32009636T>C	NCBI36
NG_011730.1:g.11392T>C , LRG_26:g.11392T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000447952.7:c.444T>C	ENSP00000391354.3:p.Tyr148=
ENST00000452323.7:c.261T>C	ENSP00000392322.2:p.Tyr87=
ENST00000468407.2:c.630T>C	ENSP00000512075.1:p.Tyr210=
ENST00000497706.6:c.125T>C	ENSP00000417482.2:p.Met42Thr
ENST00000695637.1:c.225T>C	ENSP00000512074.1:p.Tyr75=
ENST00000695638.1:c.630T>C	ENSP00000512076.1:p.Tyr210=
ENST00000695639.1:n.433T>C
ENST00000695640.1:n.568T>C
ENST00000695644.1:c.234T>C	ENSP00000512079.1:p.Tyr78=
ENST00000299367.10:c.630T>C MANE Select	ENSP00000299367.5:p.Tyr210=
ENST00000299367.9:c.630T>C	ENSP00000299367.5:p.Tyr210=
ENST00000383177.7:c.224T>C
ENST00000411571.6:c.125T>C	ENSP00000388727.2:p.Met42Thr
ENST00000418949.6:c.630T>C	ENSP00000406190.2:p.Tyr210=
ENST00000442278.6:c.234T>C	ENSP00000395683.2:p.Tyr78=
ENST00000447952.6:c.444T>C	ENSP00000391354.2:p.Tyr148=
ENST00000452202.5:c.261T>C	ENSP00000406121.1:p.Tyr87=
ENST00000452323.6:c.261T>C	ENSP00000392322.2:p.Tyr87=
ENST00000456570.5:c.444T>C	ENSP00000410815.1:p.Tyr148=
ENST00000469372.5:c.111+97T>C	ENSP00000418923.1:n.111+97T>C
ENST00000477310.1:c.443-3439T>C	ENSP00000418996.1:n.443-3439T>C
ENST00000482060.5:c.*343T>C	ENSP00000418332.1:n.*343T>C
ENST00000484636.1:c.125T>C	ENSP00000420305.1:p.Met42Thr
ENST00000494905.1:c.207T>C	ENSP00000419048.1:p.Tyr69=
ENST00000497706.5:c.125T>C	ENSP00000417482.1:p.Met42Thr
NM_000063.5:c.630T>C	NP_000054.2:p.Tyr210=
NM_001145903.2:c.234T>C	NP_001139375.1:p.Tyr78=
NM_001178063.2:c.261T>C	NP_001171534.1:p.Tyr87=
NM_001282457.1:c.111+97T>C	NP_001269386.1:n.111+97T>C
NM_001282458.1:c.543T>C	NP_001269387.1:p.Tyr181=
NM_001282459.1:c.630T>C	NP_001269388.1:p.Tyr210=
NM_000063.6:c.630T>C MANE Select	NP_000054.2:p.Tyr210=
NM_001145903.3:c.234T>C	NP_001139375.1:p.Tyr78=
NM_001282457.2:c.111+97T>C	NP_001269386.1:n.111+97T>C
NM_001282458.2:c.543T>C	NP_001269387.1:p.Tyr181=
NM_001282459.2:c.630T>C	NP_001269388.1:p.Tyr210=
NM_001178063.3:c.261T>C	NP_001171534.1:p.Tyr87=