Canonical Allele Identifier: CA204332
Community Standard Title: NM_017637.6(BNC2):c.2739C>T (p.Arg913=)
Gene: BNC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.16419550G>A , CM000671.2:g.16419550G>A GRCh38
NC_000009.11:g.16419548G>A , CM000671.1:g.16419548G>A GRCh37
NC_000009.10:g.16409548G>A NCBI36
NG_051226.1:g.456289C>T

Transcript Alleles

HGVS Amino-acid Change
NM_017637.6:c.2739C>T MANE Select NP_060107.3:p.Arg913=
ENST00000380672.9:c.2739C>T MANE Select ENSP00000370047.3:p.Arg913=
NM_001317939.1:c.*83C>T NP_001304868.1:n.*83C>T
NM_001317939.2:c.*83C>T NP_001304868.1:n.*83C>T
NM_001317940.1:c.2454C>T NP_001304869.1:p.Arg818=
NM_001317940.2:c.2454C>T NP_001304869.1:p.Arg818=
NM_017637.5:c.2739C>T NP_060107.3:p.Arg913=
ENST00000380667.6:c.2538C>T ENSP00000370042.1:p.Arg846=
ENST00000380672.8:c.2739C>T ENSP00000370047.3:p.Arg913=
ENST00000411752.5:c.1099C>T ENSP00000392212.1:n.1099C>T
ENST00000418777.5:c.2666C>T ENSP00000408370.1:n.2666C>T
ENST00000484726.5:c.*761C>T ENSP00000431516.1:n.*761C>T
ENST00000545497.5:c.*83C>T ENSP00000444640.2:n.*83C>T
ENST00000700553.1:c.2475C>T ENSP00000515060.1:p.Arg825=
XM_011517921.1:c.2964C>T XP_011516223.1:p.Arg988=
XM_011517922.1:c.2922C>T XP_011516224.1:p.Arg974=
XM_011517923.1:c.2781C>T XP_011516225.1:p.Arg927=
XM_011517924.1:c.2754C>T XP_011516226.1:p.Arg918=
XM_011517924.2:c.2754C>T XP_011516226.1:p.Arg918=
XM_011517925.1:c.2583C>T XP_011516227.1:p.Arg861=
XM_011517926.1:c.2553C>T XP_011516228.1:p.Arg851=
XM_011517927.1:c.2358C>T XP_011516229.1:p.Arg786=
XM_011517928.1:c.*83C>T XP_011516230.1:n.*83C>T
XM_011517929.1:c.2175C>T XP_011516231.1:p.Arg725=
XM_011517930.1:c.2175C>T XP_011516232.1:p.Arg725=
XM_011517931.1:c.2175C>T XP_011516233.1:p.Arg725=
XM_011517932.1:c.2175C>T XP_011516234.1:p.Arg725=
XM_011517933.1:c.*83C>T XP_011516235.1:n.*83C>T
XM_011517934.1:c.*115C>T XP_011516236.1:n.*115C>T
XM_011517934.2:c.*115C>T XP_011516236.1:n.*115C>T
XM_017014816.1:c.3006C>T XP_016870305.1:p.Arg1002=
XM_017014817.1:c.2931C>T XP_016870306.1:p.Arg977=
XM_017014818.1:c.2922C>T XP_016870307.1:p.Arg974=
XM_017014819.1:c.2865C>T XP_016870308.1:p.Arg955=
XM_017014820.1:c.2859C>T XP_016870309.1:p.Arg953=
XM_017014821.1:c.2781C>T XP_016870310.1:p.Arg927=
XM_017014822.1:c.2553C>T XP_016870311.1:p.Arg851=
XM_017014823.1:c.2553C>T XP_016870312.1:p.Arg851=
XM_017014824.1:c.2358C>T XP_016870313.1:p.Arg786=
XM_017014825.2:c.*115C>T XP_016870314.1:n.*115C>T
XM_017014826.1:c.*83C>T XP_016870315.1:n.*83C>T
XM_017014829.2:c.*115C>T XP_016870318.1:n.*115C>T