Canonical Allele Identifier: CA356154768

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5708397C>T , CM000666.2:g.5708397C>T	GRCh38
NC_000004.11:g.5710124C>T , CM000666.1:g.5710124C>T	GRCh37
NC_000004.10:g.5761025C>T	NCBI36
NG_008843.1:g.2201C>T
NG_015821.1:g.6152G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_147127.5:c.117G>A MANE Select	NP_667338.3:p.Trp39Ter
ENST00000344408.10:c.117G>A MANE Select	ENSP00000342144.5:p.Trp39Ter
NM_001166136.1:c.-13+432G>A	NP_001159608.1:n.-13+432G>A
NM_001166136.2:c.-13+432G>A	NP_001159608.1:n.-13+432G>A
NM_147127.4:c.117G>A	NP_667338.3:p.Trp39Ter
ENST00000310917.6:c.-13+432G>A	ENSP00000311683.2:n.-13+432G>A
ENST00000344408.9:c.117G>A	ENSP00000342144.5:p.Trp39Ter
ENST00000475313.5:c.-13+432G>A	ENSP00000431981.1:n.-13+432G>A
ENST00000509670.1:c.-106-257G>A	ENSP00000423876.1:n.-106-257G>A
XM_011513392.1:c.117G>A	XP_011511694.1:p.Trp39Ter
XM_011513393.1:c.117G>A	XP_011511695.1:p.Trp39Ter
XM_011513394.1:c.-13+432G>A	XP_011511696.1:n.-13+432G>A
XM_017007736.1:c.-106-257G>A	XP_016863225.1:n.-106-257G>A
XM_017007738.1:c.117G>A	XP_016863227.1:p.Trp39Ter
XM_017007739.1:c.-1538-257G>A	XP_016863228.1:n.-1538-257G>A
XR_001741141.1:n.182G>A