Canonical Allele Identifier: CA514188872
Gene: NF2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29678270_29678271insT , CM000684.2:g.29678270_29678271insT GRCh38
NC_000022.10:g.30074259_30074260insT , CM000684.1:g.30074259_30074260insT GRCh37
NC_000022.9:g.28404259_28404260insT NCBI36
NG_009057.1:g.79715_79716insT , LRG_511:g.79715_79716insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000361166.10:c.1386_1387insT ENSP00000354529.6:p.Asp463Ter
ENST00000673312.2:c.*1015_*1016insT ENSP00000500186.2:n.*1015_*1016insT
ENST00000338641.10:c.1521_1522insT MANE Select ENSP00000344666.5:p.Asp508Ter
ENST00000361166.9:c.939_940insT ENSP00000354529.5:p.Asp314Ter
ENST00000672461.1:c.1521_1522insT ENSP00000500919.1:p.Asp508Ter
ENST00000672805.1:c.*1403_*1404insT ENSP00000500295.1:n.*1403_*1404insT
ENST00000672896.1:c.1521_1522insT ENSP00000500117.1:p.Asp508Ter
ENST00000673312.1:c.1540_1541insT ENSP00000500186.1:n.1540_1541insT
ENST00000334961.11:c.1272_1273insT ENSP00000335652.7:p.Asp425Ter
ENST00000338641.8:c.1521_1522insT ENSP00000344666.4:p.Asp508Ter
ENST00000353887.8:c.1272_1273insT ENSP00000340626.4:p.Asp425Ter
ENST00000361166.8:c.1521_1522insT ENSP00000354529.4:p.Asp508Ter
ENST00000361452.8:c.1398_1399insT ENSP00000354897.4:p.Asp467Ter
ENST00000361676.8:c.1395_1396insT ENSP00000355183.4:p.Asp466Ter
ENST00000397789.3:c.1521_1522insT ENSP00000380891.3:p.Asp508Ter
ENST00000403435.5:c.1434_1435insT ENSP00000384029.1:p.Asp479Ter
ENST00000403999.7:c.1521_1522insT ENSP00000384797.3:p.Asp508Ter
ENST00000413209.6:c.448-16482_448-16481insT ENSP00000409921.2:n.448-16482_448-16481insT
ENST00000432151.5:c.*40_*41insT ENSP00000395885.1:n.*40_*41insT
NM_000268.3:c.1521_1522insT , LRG_511t1:c.1521_1522insT NP_000259.1:p.Asp508Ter
NM_016418.5:c.1521_1522insT , LRG_511t2:c.1521_1522insT NP_057502.2:p.Asp508Ter
NM_181825.2:c.1521_1522insT NP_861546.1:p.Asp508Ter
NM_181828.2:c.1395_1396insT NP_861966.1:p.Asp466Ter
NM_181829.2:c.1398_1399insT NP_861967.1:p.Asp467Ter
NM_181830.2:c.1272_1273insT NP_861968.1:p.Asp425Ter
NM_181831.2:c.1272_1273insT NP_861969.1:p.Asp425Ter
NM_181832.2:c.1521_1522insT NP_861970.1:p.Asp508Ter
NM_181833.2:c.448-16482_448-16481insT NP_861971.1:n.448-16482_448-16481insT
NR_156186.1:n.2080_2081insT
XM_017028809.2:c.1407_1408insT XP_016884298.1:p.Asp470Ter
XM_017028810.1:c.1407_1408insT XP_016884299.1:p.Asp470Ter
NM_000268.4:c.1521_1522insT MANE Select NP_000259.1:p.Asp508Ter
NM_181825.3:c.1521_1522insT NP_861546.1:p.Asp508Ter
NM_181828.3:c.1395_1396insT NP_861966.1:p.Asp466Ter
NM_181829.3:c.1398_1399insT NP_861967.1:p.Asp467Ter
NM_181830.3:c.1272_1273insT NP_861968.1:p.Asp425Ter
NM_181831.3:c.1272_1273insT NP_861969.1:p.Asp425Ter
NM_181832.3:c.1521_1522insT NP_861970.1:p.Asp508Ter
NR_156186.2:n.2003_2004insT
NM_181833.3:c.448-16482_448-16481insT NP_861971.1:n.448-16482_448-16481insT