Canonical Allele Identifier: CA2631065667

Linked Data

gnomAD v4: 16-1787306-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1787306G>T , CM000678.2:g.1787306G>T GRCh38
NC_000016.9:g.1837307G>T , CM000678.1:g.1837307G>T GRCh37
NC_000016.8:g.1777308G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000262302.14:c.334+351G>T (NUBP2) MANE Select ENSP00000262302.9:n.334+351G>T
ENST00000262302.13:c.334+351G>T (NUBP2) ENSP00000262302.9:n.334+351G>T
ENST00000562263.5:c.154+351G>T (NUBP2) ENSP00000456199.1:n.154+351G>T
ENST00000563136.5:c.353+351G>T (NUBP2) ENSP00000454576.1:n.353+351G>T
ENST00000564227.5:c.802+351G>T (NUBP2)
ENST00000565134.5:c.334+351G>T (NUBP2) ENSP00000454815.1:n.334+351G>T
ENST00000565603.5:n.460+351G>T (NUBP2)
ENST00000565987.5:c.154+351G>T (NUBP2) ENSP00000455896.1:n.154+351G>T
ENST00000567700.5:n.875G>T (NUBP2)
ENST00000568287.5:c.598+351G>T (NUBP2) ENSP00000454982.1:n.598+351G>T
ENST00000568706.1:c.-89-371G>T (NUBP2) ENSP00000460079.1:n.-89-371G>T
ENST00000568834.5:c.136-371G>T (NUBP2) ENSP00000456928.1:n.136-371G>T
ENST00000569769.1:c.-12-5811C>A (SPSB3) ENSP00000455098.1:n.-12-5811C>A
ENST00000569898.5:c.136-371G>T (NUBP2) ENSP00000456284.1:n.136-371G>T
NM_001284501.1:c.154+351G>T (NUBP2) NP_001271430.1:n.154+351G>T
NM_001284502.1:c.-89-371G>T (NUBP2) NP_001271431.1:n.-89-371G>T
NM_012225.3:c.334+351G>T (NUBP2) NP_036357.1:n.334+351G>T
NR_104318.1:n.234-371G>T (NUBP2)
XM_005255027.1:c.154+351G>T (NUBP2) XP_005255084.1:n.154+351G>T
XM_005255028.1:c.154+351G>T (NUBP2) XP_005255085.1:n.154+351G>T
XM_005255030.1:c.-89-371G>T (NUBP2) XP_005255087.1:n.-89-371G>T
XM_011522338.1:c.164-371G>T (NUBP2) XP_011520640.1:n.164-371G>T
XM_005255027.3:c.154+351G>T (NUBP2) XP_005255084.1:n.154+351G>T
XM_011522338.2:c.164-371G>T (NUBP2) XP_011520640.1:n.164-371G>T
XM_017022831.1:c.154+351G>T (NUBP2) XP_016878320.1:n.154+351G>T
XM_017022832.2:c.197-371G>T (NUBP2) XP_016878321.1:n.197-371G>T
XM_024450135.1:c.154+351G>T (NUBP2) XP_024305903.1:n.154+351G>T
NM_012225.4:c.334+351G>T (NUBP2) MANE Select NP_036357.1:n.334+351G>T
NM_001284501.2:c.154+351G>T (NUBP2) NP_001271430.1:n.154+351G>T
NM_001284502.2:c.-89-371G>T (NUBP2) NP_001271431.1:n.-89-371G>T
NR_104318.2:n.197-371G>T (NUBP2)