Canonical Allele Identifier: CA2676211101
Community Standard Title: NM_001037333.3(CYFIP2):c.3112+12C>T
Gene: CYFIP2 HGNC NCBI
NIPAL4-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157382674C>T , CM000667.2:g.157382674C>T GRCh38
NC_000005.9:g.156809682C>T , CM000667.1:g.156809682C>T GRCh37
NC_000005.8:g.156742260C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001037333.3:c.3112+12C>T (CYFIP2) MANE Select NP_001032410.1:n.3112+12C>T
ENST00000620254.5:c.3112+12C>T (CYFIP2) MANE Select ENSP00000479968.1:n.3112+12C>T
NM_001037333.2:c.3112+12C>T (CYFIP2) NP_001032410.1:n.3112+12C>T
NM_001291721.1:c.3034+12C>T (CYFIP2) NP_001278650.1:n.3034+12C>T
NM_001291721.2:c.3034+12C>T (CYFIP2) NP_001278650.1:n.3034+12C>T
NM_001291722.1:c.3187+12C>T (CYFIP2) NP_001278651.1:n.3187+12C>T
NM_001291722.2:c.3187+12C>T (CYFIP2) NP_001278651.1:n.3187+12C>T
NM_014376.3:c.3112+12C>T (CYFIP2) NP_055191.2:n.3112+12C>T
NM_014376.4:c.3112+12C>T (CYFIP2) NP_055191.2:n.3112+12C>T
NR_136204.1:n.94-6168G>A (NIPAL4-DT)
NR_136205.1:n.94-18069G>A (NIPAL4-DT)
ENST00000435847.6:c.2704+12C>T (CYFIP2) ENSP00000403793.3:n.2704+12C>T
ENST00000519499.2:c.-2232-6168G>A ENSP00000496943.1:n.-2232-6168G>A
ENST00000521420.5:c.3034+12C>T (CYFIP2) ENSP00000430904.1:n.3034+12C>T
ENST00000522463.5:c.2524+12C>T (CYFIP2) ENSP00000428009.1:n.2524+12C>T
ENST00000522892.1:n.267+12C>T (CYFIP2)
ENST00000616178.4:c.3187+12C>T (CYFIP2) ENSP00000479719.1:n.3187+12C>T
ENST00000618329.4:c.3112+12C>T (CYFIP2) ENSP00000484819.1:n.3112+12C>T
ENST00000620254.4:c.3112+12C>T (CYFIP2) ENSP00000479968.1:n.3112+12C>T
ENST00000698888.1:c.3253+12C>T (CYFIP2) ENSP00000514007.1:n.3253+12C>T
XM_011534516.1:c.3112+12C>T (CYFIP2) XP_011532818.1:n.3112+12C>T
XM_011534516.3:c.3112+12C>T (CYFIP2) XP_011532818.1:n.3112+12C>T
XM_011534517.1:c.2899+12C>T (CYFIP2) XP_011532819.1:n.2899+12C>T
XM_011534705.1:c.66+444G>A (NIPAL4-DT) XP_011533007.1:n.66+444G>A
XM_017009341.1:c.3112+12C>T (CYFIP2) XP_016864830.1:n.3112+12C>T
XM_017009342.1:c.2899+12C>T (CYFIP2) XP_016864831.1:n.2899+12C>T
XR_427814.2:n.50-6168G>A (NIPAL4-DT)
XR_941124.1:n.79+1763G>A (NIPAL4-DT)
XR_941125.1:n.79+1763G>A (NIPAL4-DT)