Canonical Allele Identifier: CA2835368

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5689173G>C , CM000666.2:g.5689173G>C	GRCh38
NC_000004.11:g.5690900G>C , CM000666.1:g.5690900G>C	GRCh37
NC_000004.10:g.5741801G>C	NCBI36
NG_015821.1:g.25376C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_147127.5:c.690C>G MANE Select	NP_667338.3:p.Ser230Arg
ENST00000344408.10:c.690C>G MANE Select	ENSP00000342144.5:p.Ser230Arg
NM_001166136.1:c.450C>G	NP_001159608.1:p.Ser150Arg
NM_001166136.2:c.450C>G	NP_001159608.1:p.Ser150Arg
NM_147127.4:c.690C>G	NP_667338.3:p.Ser230Arg
ENST00000310917.6:c.450C>G	ENSP00000311683.2:p.Ser150Arg
ENST00000344408.9:c.690C>G	ENSP00000342144.5:p.Ser230Arg
ENST00000475313.5:c.450C>G	ENSP00000431981.1:p.Ser150Arg
ENST00000509670.1:c.450C>G	ENSP00000423876.1:p.Ser150Arg
XM_011513392.1:c.690C>G	XP_011511694.1:p.Ser230Arg
XM_011513393.1:c.690C>G	XP_011511695.1:p.Ser230Arg
XM_011513394.1:c.450C>G	XP_011511696.1:p.Ser150Arg
XM_017007736.1:c.450C>G	XP_016863225.1:p.Ser150Arg
XM_017007737.1:c.450C>G	XP_016863226.1:p.Ser150Arg
XM_017007738.1:c.690C>G	XP_016863227.1:p.Ser230Arg
XM_017007739.1:c.-983C>G	XP_016863228.1:n.-983C>G
XM_024453893.1:c.-1087C>G	XP_024309661.1:n.-1087C>G
XR_001741141.1:n.755C>G