Canonical Allele Identifier: CA363496280

Gene: C2

Linked Data

• MyVariant Identifiers: chr6:g.31901502T>A (hg19) ; chr6:g.31933725T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31933725T>A , CM000668.2:g.31933725T>A	GRCh38
NC_000006.11:g.31901502T>A , CM000668.1:g.31901502T>A	GRCh37
NC_000006.10:g.32009481T>A	NCBI36
NG_011730.1:g.11237T>A , LRG_26:g.11237T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447952.7:c.372T>A	ENSP00000391354.3:p.Ser124=
ENST00000452323.7:c.189T>A	ENSP00000392322.2:p.Ser63=
ENST00000468407.2:c.558T>A	ENSP00000512075.1:p.Ser186=
ENST00000497706.6:c.53T>A	ENSP00000417482.2:p.Leu18His
ENST00000695637.1:c.153T>A	ENSP00000512074.1:p.Ser51=
ENST00000695638.1:c.558T>A	ENSP00000512076.1:p.Ser186=
ENST00000695639.1:n.278T>A
ENST00000695640.1:n.413T>A
ENST00000695644.1:c.162T>A	ENSP00000512079.1:p.Ser54=
ENST00000299367.10:c.558T>A MANE Select	ENSP00000299367.5:p.Ser186=
ENST00000299367.9:c.558T>A	ENSP00000299367.5:p.Ser186=
ENST00000383177.7:c.152T>A
ENST00000411571.6:c.53T>A	ENSP00000388727.2:p.Leu18His
ENST00000418949.6:c.558T>A	ENSP00000406190.2:p.Ser186=
ENST00000442278.6:c.162T>A	ENSP00000395683.2:p.Ser54=
ENST00000447952.6:c.372T>A	ENSP00000391354.2:p.Ser124=
ENST00000452202.5:c.189T>A	ENSP00000406121.1:p.Ser63=
ENST00000452323.6:c.189T>A	ENSP00000392322.2:p.Ser63=
ENST00000456570.5:c.372T>A	ENSP00000410815.1:p.Ser124=
ENST00000469372.5:c.53T>A	ENSP00000418923.1:p.Leu18His
ENST00000477310.1:c.443-3594T>A	ENSP00000418996.1:n.443-3594T>A
ENST00000482060.5:c.*271T>A	ENSP00000418332.1:n.*271T>A
ENST00000484636.1:c.53T>A	ENSP00000420305.1:p.Leu18His
ENST00000494905.1:c.135T>A	ENSP00000419048.1:p.Ser45=
ENST00000497706.5:c.53T>A	ENSP00000417482.1:p.Leu18His
NM_000063.5:c.558T>A	NP_000054.2:p.Ser186=
NM_001145903.2:c.162T>A	NP_001139375.1:p.Ser54=
NM_001178063.2:c.189T>A	NP_001171534.1:p.Ser63=
NM_001282457.1:c.53T>A	NP_001269386.1:p.Leu18His
NM_001282458.1:c.471T>A	NP_001269387.1:p.Ser157=
NM_001282459.1:c.558T>A	NP_001269388.1:p.Ser186=
NM_000063.6:c.558T>A MANE Select	NP_000054.2:p.Ser186=
NM_001145903.3:c.162T>A	NP_001139375.1:p.Ser54=
NM_001282457.2:c.53T>A	NP_001269386.1:p.Leu18His
NM_001282458.2:c.471T>A	NP_001269387.1:p.Ser157=
NM_001282459.2:c.558T>A	NP_001269388.1:p.Ser186=
NM_001178063.3:c.189T>A	NP_001171534.1:p.Ser63=