Canonical Allele Identifier: CA2835016

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5631963G>A , CM000666.2:g.5631963G>A	GRCh38
NC_000004.11:g.5633690G>A , CM000666.1:g.5633690G>A	GRCh37
NC_000004.10:g.5684591G>A	NCBI36
NG_015821.1:g.82586C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_147127.5:c.1540C>T MANE Select	NP_667338.3:p.Leu514Phe
ENST00000344408.10:c.1540C>T MANE Select	ENSP00000342144.5:p.Leu514Phe
NM_001166136.1:c.1300C>T	NP_001159608.1:p.Leu434Phe
NM_001166136.2:c.1300C>T	NP_001159608.1:p.Leu434Phe
NM_147127.4:c.1540C>T	NP_667338.3:p.Leu514Phe
ENST00000310917.6:c.1300C>T	ENSP00000311683.2:p.Leu434Phe
ENST00000344408.9:c.1540C>T	ENSP00000342144.5:p.Leu514Phe
ENST00000475313.5:c.1300C>T	ENSP00000431981.1:p.Leu434Phe
ENST00000509670.1:c.1292C>T	ENSP00000423876.1:p.Ser431Phe
XM_011513392.1:c.1549C>T	XP_011511694.1:p.Leu517Phe
XM_011513393.1:c.1549C>T	XP_011511695.1:p.Leu517Phe
XM_011513394.1:c.1309C>T	XP_011511696.1:p.Leu437Phe
XM_017007736.1:c.1300C>T	XP_016863225.1:p.Leu434Phe
XM_017007737.1:c.1300C>T	XP_016863226.1:p.Leu434Phe
XM_017007738.1:c.1540C>T	XP_016863227.1:p.Leu514Phe
XM_017007739.1:c.-141C>T	XP_016863228.1:n.-141C>T
XM_024453893.1:c.-141C>T	XP_024309661.1:n.-141C>T
XR_001741141.1:n.1605C>T