Canonical Allele Identifier: CA3533644

Gene: CYFIP2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157320661A>G , CM000667.2:g.157320661A>G	GRCh38
NC_000005.9:g.156747669A>G , CM000667.1:g.156747669A>G	GRCh37
NC_000005.8:g.156680247A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001037333.3:c.1530A>G MANE Select	NP_001032410.1:p.Leu510=
ENST00000620254.5:c.1530A>G MANE Select	ENSP00000479968.1:p.Leu510=
NM_001037333.2:c.1530A>G	NP_001032410.1:p.Leu510=
NM_001291721.1:c.1452A>G	NP_001278650.1:p.Leu484=
NM_001291721.2:c.1452A>G	NP_001278650.1:p.Leu484=
NM_001291722.1:c.1530A>G	NP_001278651.1:p.Leu510=
NM_001291722.2:c.1530A>G	NP_001278651.1:p.Leu510=
NM_014376.3:c.1530A>G	NP_055191.2:p.Leu510=
NM_014376.4:c.1530A>G	NP_055191.2:p.Leu510=
ENST00000435847.6:c.1122A>G	ENSP00000403793.3:p.Leu374=
ENST00000521420.5:c.1452A>G	ENSP00000430904.1:p.Leu484=
ENST00000522463.5:c.942A>G	ENSP00000428009.1:p.Leu314=
ENST00000616178.4:c.1530A>G	ENSP00000479719.1:p.Leu510=
ENST00000618329.4:c.1530A>G	ENSP00000484819.1:p.Leu510=
ENST00000620254.4:c.1530A>G	ENSP00000479968.1:p.Leu510=
ENST00000620969.4:c.-616A>G	ENSP00000483307.1:n.-616A>G
ENST00000698888.1:c.1530A>G	ENSP00000514007.1:p.Leu510=
XM_011534516.1:c.1530A>G	XP_011532818.1:p.Leu510=
XM_011534516.3:c.1530A>G	XP_011532818.1:p.Leu510=
XM_011534517.1:c.1317A>G	XP_011532819.1:p.Leu439=
XM_017009341.1:c.1530A>G	XP_016864830.1:p.Leu510=
XM_017009342.1:c.1317A>G	XP_016864831.1:p.Leu439=
XR_001742052.2:n.1635A>G