Canonical Allele Identifier: CA356148345

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5689219C>T , CM000666.2:g.5689219C>T	GRCh38
NC_000004.11:g.5690946C>T , CM000666.1:g.5690946C>T	GRCh37
NC_000004.10:g.5741847C>T	NCBI36
NG_015821.1:g.25330G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_147127.5:c.644G>A MANE Select	NP_667338.3:p.Trp215Ter
ENST00000344408.10:c.644G>A MANE Select	ENSP00000342144.5:p.Trp215Ter
NM_001166136.1:c.404G>A	NP_001159608.1:p.Trp135Ter
NM_001166136.2:c.404G>A	NP_001159608.1:p.Trp135Ter
NM_147127.4:c.644G>A	NP_667338.3:p.Trp215Ter
ENST00000310917.6:c.404G>A	ENSP00000311683.2:p.Trp135Ter
ENST00000344408.9:c.644G>A	ENSP00000342144.5:p.Trp215Ter
ENST00000475313.5:c.404G>A	ENSP00000431981.1:p.Trp135Ter
ENST00000509670.1:c.404G>A	ENSP00000423876.1:p.Trp135Ter
XM_011513392.1:c.644G>A	XP_011511694.1:p.Trp215Ter
XM_011513393.1:c.644G>A	XP_011511695.1:p.Trp215Ter
XM_011513394.1:c.404G>A	XP_011511696.1:p.Trp135Ter
XM_017007736.1:c.404G>A	XP_016863225.1:p.Trp135Ter
XM_017007737.1:c.404G>A	XP_016863226.1:p.Trp135Ter
XM_017007738.1:c.644G>A	XP_016863227.1:p.Trp215Ter
XM_017007739.1:c.-1029G>A	XP_016863228.1:n.-1029G>A
XM_024453893.1:c.-1133G>A	XP_024309661.1:n.-1133G>A
XR_001741141.1:n.709G>A