Canonical Allele Identifier: CA361982144
Gene: CYFIP2 HGNC NCBI
NIPAL4-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157389304G>T , CM000667.2:g.157389304G>T GRCh38
NC_000005.9:g.156816312G>T , CM000667.1:g.156816312G>T GRCh37
NC_000005.8:g.156748890G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001037333.3:c.3323G>T (CYFIP2) MANE Select NP_001032410.1:p.Trp1108Leu
ENST00000620254.5:c.3323G>T (CYFIP2) MANE Select ENSP00000479968.1:p.Trp1108Leu
NM_001037333.2:c.3323G>T (CYFIP2) NP_001032410.1:p.Trp1108Leu
NM_001291721.1:c.3245G>T (CYFIP2) NP_001278650.1:p.Trp1082Leu
NM_001291721.2:c.3245G>T (CYFIP2) NP_001278650.1:p.Trp1082Leu
NM_001291722.1:c.3398G>T (CYFIP2) NP_001278651.1:p.Trp1133Leu
NM_001291722.2:c.3398G>T (CYFIP2) NP_001278651.1:p.Trp1133Leu
NM_014376.3:c.3323G>T (CYFIP2) NP_055191.2:p.Trp1108Leu
NM_014376.4:c.3323G>T (CYFIP2) NP_055191.2:p.Trp1108Leu
NR_136204.1:n.94-12798C>A (NIPAL4-DT)
NR_136205.1:n.94-24699C>A (NIPAL4-DT)
ENST00000435847.6:c.2915G>T (CYFIP2) ENSP00000403793.3:p.Trp972Leu
ENST00000519499.2:c.-2232-12798C>A ENSP00000496943.1:n.-2232-12798C>A
ENST00000519663.5:n.220G>T (CYFIP2)
ENST00000521420.5:c.3245G>T (CYFIP2) ENSP00000430904.1:p.Trp1082Leu
ENST00000522463.5:c.2735G>T (CYFIP2) ENSP00000428009.1:p.Trp912Leu
ENST00000522775.1:n.341G>T (CYFIP2)
ENST00000522884.5:n.341G>T (CYFIP2)
ENST00000523383.5:n.244G>T (CYFIP2)
ENST00000524058.1:n.238G>T (CYFIP2)
ENST00000616178.4:c.3398G>T (CYFIP2) ENSP00000479719.1:p.Trp1133Leu
ENST00000618329.4:c.3323G>T (CYFIP2) ENSP00000484819.1:p.Trp1108Leu
ENST00000620254.4:c.3323G>T (CYFIP2) ENSP00000479968.1:p.Trp1108Leu
ENST00000698888.1:c.3464G>T (CYFIP2) ENSP00000514007.1:p.Trp1155Leu
XM_011534516.1:c.3323G>T (CYFIP2) XP_011532818.1:p.Trp1108Leu
XM_011534516.3:c.3323G>T (CYFIP2) XP_011532818.1:p.Trp1108Leu
XM_011534517.1:c.3110G>T (CYFIP2) XP_011532819.1:p.Trp1037Leu
XM_017009341.1:c.3323G>T (CYFIP2) XP_016864830.1:p.Trp1108Leu
XM_017009342.1:c.3110G>T (CYFIP2) XP_016864831.1:p.Trp1037Leu
XR_427814.2:n.50-12798C>A (NIPAL4-DT)