Canonical Allele Identifier: CA361968118

Gene: CYFIP2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157311755G>A , CM000667.2:g.157311755G>A	GRCh38
NC_000005.9:g.156738763G>A , CM000667.1:g.156738763G>A	GRCh37
NC_000005.8:g.156671341G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698888.1:c.1084G>A	ENSP00000514007.1:p.Glu362Lys
ENST00000620254.5:c.1084G>A MANE Select	ENSP00000479968.1:p.Glu362Lys
ENST00000435847.6:c.676G>A	ENSP00000403793.3:p.Glu226Lys
ENST00000520942.1:n.718G>A
ENST00000521420.5:c.1006G>A	ENSP00000430904.1:p.Glu336Lys
ENST00000522463.5:c.496G>A	ENSP00000428009.1:p.Glu166Lys
ENST00000616178.4:c.1084G>A	ENSP00000479719.1:p.Glu362Lys
ENST00000618329.4:c.1084G>A	ENSP00000484819.1:p.Glu362Lys
ENST00000620254.4:c.1084G>A	ENSP00000479968.1:p.Glu362Lys
ENST00000620969.4:c.-1062G>A	ENSP00000483307.1:n.-1062G>A
NM_001037333.2:c.1084G>A	NP_001032410.1:p.Glu362Lys
NM_001291721.1:c.1006G>A	NP_001278650.1:p.Glu336Lys
NM_001291722.1:c.1084G>A	NP_001278651.1:p.Glu362Lys
NM_014376.3:c.1084G>A	NP_055191.2:p.Glu362Lys
XM_011534516.1:c.1084G>A	XP_011532818.1:p.Glu362Lys
XM_011534517.1:c.871G>A	XP_011532819.1:p.Glu291Lys
XM_011534516.3:c.1084G>A	XP_011532818.1:p.Glu362Lys
XM_017009341.1:c.1084G>A	XP_016864830.1:p.Glu362Lys
XM_017009342.1:c.871G>A	XP_016864831.1:p.Glu291Lys
XR_001742052.2:n.1189G>A
NM_001037333.3:c.1084G>A MANE Select	NP_001032410.1:p.Glu362Lys
NM_001291721.2:c.1006G>A	NP_001278650.1:p.Glu336Lys
NM_001291722.2:c.1084G>A	NP_001278651.1:p.Glu362Lys
NM_014376.4:c.1084G>A	NP_055191.2:p.Glu362Lys