Canonical Allele Identifier: CA356147124

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5563041G>T , CM000666.2:g.5563041G>T	GRCh38
NC_000004.11:g.5564768G>T , CM000666.1:g.5564768G>T	GRCh37
NC_000004.10:g.5615669G>T	NCBI36
NG_015821.1:g.151508C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_147127.5:c.3734C>A MANE Select	NP_667338.3:p.Ser1245Ter
ENST00000344408.10:c.3734C>A MANE Select	ENSP00000342144.5:p.Ser1245Ter
NM_001166136.1:c.3494C>A	NP_001159608.1:p.Ser1165Ter
NM_001166136.2:c.3494C>A	NP_001159608.1:p.Ser1165Ter
NM_147127.4:c.3734C>A	NP_667338.3:p.Ser1245Ter
ENST00000310917.6:c.3494C>A	ENSP00000311683.2:p.Ser1165Ter
ENST00000344408.9:c.3734C>A	ENSP00000342144.5:p.Ser1245Ter
ENST00000475313.5:c.3419+2217C>A	ENSP00000431981.1:n.3419+2217C>A
ENST00000509670.1:c.*2127C>A	ENSP00000423876.1:n.*2127C>A
XM_011513392.1:c.3743C>A	XP_011511694.1:p.Ser1248Ter
XM_011513393.1:c.3668+2217C>A	XP_011511695.1:n.3668+2217C>A
XM_011513394.1:c.3503C>A	XP_011511696.1:p.Ser1168Ter
XM_017007736.1:c.3494C>A	XP_016863225.1:p.Ser1165Ter
XM_017007737.1:c.3494C>A	XP_016863226.1:p.Ser1165Ter
XM_017007739.1:c.2054C>A	XP_016863228.1:p.Ser685Ter
XM_024453893.1:c.2054C>A	XP_024309661.1:p.Ser685Ter
XR_001741141.1:n.3584C>A