Canonical Allele Identifier: CA361969037
Community Standard Title: NM_001037333.3(CYFIP2):c.1469C>T (p.Thr490Met)
Gene: CYFIP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157319874C>T , CM000667.2:g.157319874C>T GRCh38
NC_000005.9:g.156746882C>T , CM000667.1:g.156746882C>T GRCh37
NC_000005.8:g.156679460C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001037333.3:c.1469C>T MANE Select NP_001032410.1:p.Thr490Met
ENST00000620254.5:c.1469C>T MANE Select ENSP00000479968.1:p.Thr490Met
NM_001037333.2:c.1469C>T NP_001032410.1:p.Thr490Met
NM_001291721.1:c.1391C>T NP_001278650.1:p.Thr464Met
NM_001291721.2:c.1391C>T NP_001278650.1:p.Thr464Met
NM_001291722.1:c.1469C>T NP_001278651.1:p.Thr490Met
NM_001291722.2:c.1469C>T NP_001278651.1:p.Thr490Met
NM_014376.3:c.1469C>T NP_055191.2:p.Thr490Met
NM_014376.4:c.1469C>T NP_055191.2:p.Thr490Met
ENST00000435847.6:c.1061C>T ENSP00000403793.3:p.Thr354Met
ENST00000521420.5:c.1391C>T ENSP00000430904.1:p.Thr464Met
ENST00000522463.5:c.881C>T ENSP00000428009.1:p.Thr294Met
ENST00000616178.4:c.1469C>T ENSP00000479719.1:p.Thr490Met
ENST00000618329.4:c.1469C>T ENSP00000484819.1:p.Thr490Met
ENST00000620254.4:c.1469C>T ENSP00000479968.1:p.Thr490Met
ENST00000620969.4:c.-677C>T ENSP00000483307.1:n.-677C>T
ENST00000698888.1:c.1469C>T ENSP00000514007.1:p.Thr490Met
XM_011534516.1:c.1469C>T XP_011532818.1:p.Thr490Met
XM_011534516.3:c.1469C>T XP_011532818.1:p.Thr490Met
XM_011534517.1:c.1256C>T XP_011532819.1:p.Thr419Met
XM_017009341.1:c.1469C>T XP_016864830.1:p.Thr490Met
XM_017009342.1:c.1256C>T XP_016864831.1:p.Thr419Met
XR_001742052.2:n.1574C>T