Canonical Allele Identifier: CA361982200
Gene: CYFIP2 HGNC NCBI
NIPAL4-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157389334T>C , CM000667.2:g.157389334T>C GRCh38
NC_000005.9:g.156816342T>C , CM000667.1:g.156816342T>C GRCh37
NC_000005.8:g.156748920T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001037333.3:c.3353T>C (CYFIP2) MANE Select NP_001032410.1:p.Met1118Thr
ENST00000620254.5:c.3353T>C (CYFIP2) MANE Select ENSP00000479968.1:p.Met1118Thr
NM_001037333.2:c.3353T>C (CYFIP2) NP_001032410.1:p.Met1118Thr
NM_001291721.1:c.3275T>C (CYFIP2) NP_001278650.1:p.Met1092Thr
NM_001291721.2:c.3275T>C (CYFIP2) NP_001278650.1:p.Met1092Thr
NM_001291722.1:c.3428T>C (CYFIP2) NP_001278651.1:p.Met1143Thr
NM_001291722.2:c.3428T>C (CYFIP2) NP_001278651.1:p.Met1143Thr
NM_014376.3:c.3353T>C (CYFIP2) NP_055191.2:p.Met1118Thr
NM_014376.4:c.3353T>C (CYFIP2) NP_055191.2:p.Met1118Thr
NR_136204.1:n.94-12828A>G (NIPAL4-DT)
NR_136205.1:n.94-24729A>G (NIPAL4-DT)
ENST00000435847.6:c.2945T>C (CYFIP2) ENSP00000403793.3:p.Met982Thr
ENST00000519499.2:c.-2232-12828A>G ENSP00000496943.1:n.-2232-12828A>G
ENST00000519663.5:n.250T>C (CYFIP2)
ENST00000521420.5:c.3275T>C (CYFIP2) ENSP00000430904.1:p.Met1092Thr
ENST00000522463.5:c.2765T>C (CYFIP2) ENSP00000428009.1:p.Met922Thr
ENST00000522775.1:n.371T>C (CYFIP2)
ENST00000522884.5:n.371T>C (CYFIP2)
ENST00000523383.5:n.274T>C (CYFIP2)
ENST00000524058.1:n.268T>C (CYFIP2)
ENST00000616178.4:c.3428T>C (CYFIP2) ENSP00000479719.1:p.Met1143Thr
ENST00000618329.4:c.3353T>C (CYFIP2) ENSP00000484819.1:p.Met1118Thr
ENST00000620254.4:c.3353T>C (CYFIP2) ENSP00000479968.1:p.Met1118Thr
ENST00000698888.1:c.3494T>C (CYFIP2) ENSP00000514007.1:p.Met1165Thr
XM_011534516.1:c.3353T>C (CYFIP2) XP_011532818.1:p.Met1118Thr
XM_011534516.3:c.3353T>C (CYFIP2) XP_011532818.1:p.Met1118Thr
XM_011534517.1:c.3140T>C (CYFIP2) XP_011532819.1:p.Met1047Thr
XM_017009341.1:c.3353T>C (CYFIP2) XP_016864830.1:p.Met1118Thr
XM_017009342.1:c.3140T>C (CYFIP2) XP_016864831.1:p.Met1047Thr
XR_427814.2:n.50-12828A>G (NIPAL4-DT)